Linkage disequilibrium mapping in isolated populations: the example of Finland revisited (Q34754002)

4 August 2017

title

Linkage disequilibrium mapping in isolated populations: the example of Finland revisited (English)

1 reference

4 August 2017

0 references

1 reference

linkage disequilibrium

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inferred from title

author

Albert de la Chapelle

series ordinal

1

object named as

A de la Chapelle

1 reference

4 August 2017

F A Wright

2

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4 August 2017

language of work or name

English

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publication date

1 October 1998

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4 August 2017

number of pages

8

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Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

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4 August 2017

volume

95

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4 August 2017

issue

21

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4 August 2017

page(s)

12416-12423

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Mutations of Bacteria from Virus Sensitivity to Virus Resistance

4 August 2017

cites work

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Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals

7 July 2018

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7 July 2018

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7 July 2018

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Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene

7 July 2018

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Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

7 July 2018

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7 July 2018

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Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

7 July 2018

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7 July 2018

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7 July 2018

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Positional cloning of the APECED gene

7 July 2018

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7 July 2018

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Positional cloning of the gene associated with X-linked juvenile retinoschisis

7 July 2018

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High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.

7 July 2018

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Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

7 July 2018

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High-resolution physical and transcriptional mapping of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy locus on chromosome 21q22.3 by FISH

7 July 2018

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7 July 2018

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Fine-scale genetic mapping based on linkage disequilibrium: theory and applications

21 January 2018

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Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14

7 July 2018

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Linkage mapping in experimental crosses: the robustness of single-gene models

7 July 2018

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Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

7 July 2018

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Mutations predisposing to hereditary nonpolyposis colorectal cancer

7 July 2018

2 references

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7 July 2018

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis

21 January 2018

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Fine-scale mapping of quantitative trait loci using historical recombinations.

7 July 2018

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Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

7 July 2018

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Allelic disequilibrium and allele frequency distribution as a function of social and demographic history

7 July 2018

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Refined mapping of the Usher syndrome type III locus on chromosome 3, exclusion of candidate genes, and identification of the putative mouse homologous region

7 July 2018

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Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene

7 July 2018

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Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer

7 July 2018

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Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

7 July 2018

1 reference

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Lessons from hereditary colorectal cancer

7 July 2018

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Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22.

7 July 2018

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Progressive myoclonus epilepsy EPM1 locus maps to a 175-kb interval in distal 21q.

7 July 2018

1 reference

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A comprehensive genetic map of the human genome based on 5,264 microsatellites

7 July 2018

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Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Diagnostic criteria and genetics of the PEHO syndrome

7 July 2018

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Disease gene mapping in isolated human populations: the example of Finland

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6

7 July 2018

1 reference

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The genetics of XX gonadal dysgenesis

7 July 2018

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Maximum-likelihood estimation of gene location by linkage disequilibrium

7 July 2018

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Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

7 July 2018

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Design and sample-size considerations in the detection of linkage disequilibrium with a disease locus.

7 July 2018

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Linkage disequilibrium in growing and stable populations

7 July 2018

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The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

7 July 2018

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Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families

7 July 2018

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Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

7 July 2018

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High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

7 July 2018

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Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

7 July 2018

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Asymptotic theory for gene mapping

7 July 2018

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The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

7 July 2018

1 reference

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Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis

7 July 2018

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The origin of the major cystic fibrosis mutation (delta F508) in European populations.

7 July 2018

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A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci

7 July 2018

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Likelihood methods for locating disease genes in nonequilibrium populations.

7 July 2018

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Random search for shared chromosomal regions in four affected individuals: the assignment of a new hereditary ataxia locus

7 July 2018

1 reference

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Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

7 July 2018

1 reference

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Assignment of an Usher syndrome type III (USH3) gene to chromosome 3q.

7 July 2018

1 reference

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

7 July 2018

1 reference

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The distribution of linkage disequilibrium over anonymous genome regions

7 July 2018

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Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium

7 July 2018

1 reference

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Cornea plana congenita gene assigned to the long arm of chromosome 12 by linkage analysis

7 July 2018

1 reference

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Selective intestinal malabsorption of vitamin B12 displays recessive mendelian inheritance: assignment of a locus to chromosome 10 by linkage.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

7 July 2018

1 reference

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The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Congenital lactase deficiency. A clinical study on 16 patients

7 July 2018

1 reference

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Construction of a genetic linkage map in man using restriction fragment length polymorphisms

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

The Finnish population structure A genetic and genealogical study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Hereditary diseases in Finland; rare flora in rare soul

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

A lethal autosomal recessive syndrome of multiple congenital contractures

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Muscle-eye-brain disease (MEB)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Haplotype and multipoint linkage analysis in Finnish choroideremia families

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Linkage disequilibrium in Huntington's disease: an improved localisation for the gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

At least two mutant alleles of ornithine delta-aminotransferase cause gyrate atrophy of the choroid and retina in Finns.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

7 July 2018

Hydrolethalus syndrome

1 reference

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Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Refined localization of the gene causing X-linked juvenile retinoschisis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Diastrophic dysplasia gene maps to the distal long arm of chromosome 5

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Aberrant splicing of the CHM gene is a significant cause of choroideremia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

The genetic structure of Finland

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Bootstrap Methods: Another Look at the Jackknife

28 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Haplotype analysis to determine the position of a mutation among closely linked DNA markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

The Numerical Results of Diverse Systems of Breeding, with Respect to Two Pairs of Characters, Linked or Independent, with Special Relation to the Effects of Linkage.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Linkage disequilibrium and gene mapping: an empirical least-squares approach

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Likelihood ratio tests for linkage and linkage disequilibrium: asymptotic distribution and power.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Linkage disequilibrium as a gene-mapping tool.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=22846

Disequilibrium Mapping: Composite Likelihood for Pairwise Disequilibrium

26 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Linkage disequilibrium mapping of the cornea plana congenita gene CNA2

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Human genetics: the molecular challenge

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Composite likelihood methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Hidden linkage: a comparison of the affected sib pair (ASP) test and transmission/disequilibrium test (TDT)

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.95.21.12416

Haplotype analysis of congenital nephrotic syndrome of the Finnish type in non-Finnish families

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9770501

12 December 2020

inferred from PubMed ID database lookup

The minisatellite expansion mutation in EPM1: resolution of an initial discrepancy. Mutatations in brief no. 186. Online

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9770501

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1073/PNAS.95.21.12416

1 reference

4 August 2017

0 references

1 reference

4 August 2017

1 reference