Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis (Q24538901)

6 July 2017

title

Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis (English)

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6 July 2017

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5

A Reis

A

Reis

1 reference

6 July 2017

Hennies HC

1

H C

Hennies

1 reference

6 July 2017

Küster W

series ordinal

2

author given names

W

author last names

Küster

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6 July 2017

Wiebe V

series ordinal

3

author given names

V

author last names

Wiebe

1 reference

6 July 2017

Krebsová A

series ordinal

4

author given names

A

author last names

Krebsová

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6 July 2017

language of work or name

English

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publication date

1 May 1998

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American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

62

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6 July 2017

issue

5

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6 July 2017

page(s)

1052-1061

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The structure of the transglutaminase 1 enzyme. Deletion cloning reveals domains that regulate its specific activity and substrate specificity

6 July 2017

cites work

1 reference

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Three-dimensional structure of a transglutaminase: human blood coagulation factor XIII

24 March 2017

1 reference

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Primary structure of blood coagulation factor XIIIa (fibrinoligase, transglutaminase) from human placenta

24 March 2017

1 reference

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Keratinocyte-specific transglutaminase of cultured human epidermal cells: relation to cross-linked envelope formation and terminal differentiation

24 March 2017

1 reference

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

24 March 2017

1 reference

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Strategies for multilocus linkage analysis in humans

24 March 2017

1 reference

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A Gene Map of the Human Genome

24 March 2017

1 reference

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Assignment of the human transglutaminase 2 (TGM2) and transglutaminase 3 (TGM3) genes to chromosome 20q11.2

24 March 2017

1 reference

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Structure of the gene for human transglutaminase 1

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Structure and organization of the human transglutaminase 1 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function

24 March 2017

1 reference

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Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

24 March 2017

1 reference

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An STS-based map of the human genome

7 April 2017

1 reference

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Expression of tissue transglutaminase in skeletal tissues correlates with events of terminal differentiation of chondrocytes

27 September 2017

1 reference

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Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

The human tissue transglutaminase gene maps on chromosome 20q12 by in situ fluorescence hybridization

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377076

Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases

29 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545389

12 December 2020

Autosomal dominant lamellar ichthyosis: a new skin disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545389

12 December 2020

Analysis of the cornified cell envelope in lamellar ichthyosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545389

12 December 2020

Absent transglutaminase TGK expression in two of three patients with lamellar ichthyosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545389

12 December 2020

Lamellar Ichthyosis Is Genetically Heterogeneous–Cases with Normal Keratinocyte Transglutaminase

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545389

12 December 2020

Autosomal recessive lamellar ichthyosis: identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545389

12 December 2020

Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit

1 reference

https://pubmed.ncbi.nlm.nih.gov/9545389

12 December 2020

Genome maps 7. The human transcript map. Wall chart

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301818

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301818

1 reference

release_zti4fk6iffhw7khbwpbyskb6yq

6 July 2017

Fatcat ID

0 references

PMC publication ID

1377076

1 reference

6 July 2017

1 reference