(Q34397965)

1 August 2017

1 reference

title

Human germline mutation in the factor IX gene (English)

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1 August 2017

Sommer SS

1

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1 August 2017

Scaringe WA

series ordinal

2

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1 August 2017

Hill KA

series ordinal

3

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1 August 2017

language of work or name

English

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publication date

1 November 2001

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1 August 2017

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1 August 2017

volume

487

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1 August 2017

issue

1-2

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1 August 2017

page(s)

1-17

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Dystrophin. The gene and its product

1 August 2017

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7 January 2021

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

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Point mutations in the dystrophin gene

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Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

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7 January 2021

Recent human germ-line mutation: inferences from patients with hemophilia B.

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7 January 2021

A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism

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Mutation in human populations

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Mortality in patients with hemophilia. Changes in a Dutch population from 1986 to 1992 and 1973 to 1986.

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Plasma thromboplastin component (PTC) deficiency; a new disease resembling hemophilia

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Christmas disease: a condition previously mistaken for haemophilia

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7 January 2021

X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B

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Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy

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The structure of a Ca2+-binding epidermal growth factor-like domain: Its role in protein-protein interactions

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7 January 2021

Coagulation factor IXa: the relaxed conformation of Tyr99 blocks substrate binding

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7 January 2021

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7 January 2021

The factor IX gene as a model for analysis of human germline mutations: an update

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The molecular basis of haemophilia B.

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Determinants of the factor IX mutational spectrum in haemophilia B: an analysis of missense mutations using a multi-domain molecular model of the activated protein

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7 January 2021

Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B.

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7 January 2021

Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity

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7 January 2021

The X chromosome and the rate of deleterious mutations in humans

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7 January 2021

The Sequence of the Human Genome

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7 January 2021

Clinical implications of the p53 tumor-suppressor gene

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7 January 2021

p53 mutation spectrum and load: the generation of hypotheses linking the exposure of endogenous or exogenous carcinogens to human cancer

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7 January 2021

A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma

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7 January 2021

Selective G to T mutations of p53 gene in hepatocellular carcinoma from southern Africa

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Mutational hot spot in the p53 gene in human hepatocellular carcinomas

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7 January 2021

Aflatoxin B1 induces the transversion of G-->T in codon 249 of the p53 tumor suppressor gene in human hepatocytes

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7 January 2021

Aberrations of p53 gene in human hepatocellular carcinoma from China.

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7 January 2021

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7 January 2021

The molecular epidemiology of p53 gene mutations in human breast cancer

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7 January 2021

Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden

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7 January 2021

Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample.

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7 January 2021

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.

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7 January 2021

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations

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7 January 2021

Does cancer kill the individual and save the species?

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7 January 2021

The contribution of exogenous and endogenous mutagens to in vivo mutations

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7 January 2021

The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene

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7 January 2021

Patterns of nucleotide substitution in pseudogenes and functional genes

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7 January 2021

Nonrandomness of point mutation as reflected in nucleotide substitutions in pseudogenes and its evolutionary implications

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7 January 2021

Wide variations in neighbor-dependent substitution rates.

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7 January 2021

Single base-pair substitutions in pathology and evolution: Two sides to the same coin

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7 January 2021

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.

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7 January 2021

Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence

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7 January 2021

Deletions with inversions: report of a mutation and review of the literature.

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7 January 2021

Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline

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7 January 2021

Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans

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7 January 2021

Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States

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7 January 2021

The mutation rate of the gene for haemophilia, and its segregation ratios in males and females

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7 January 2021

RFLP analysis in families with sporadic hemophilia A. Estimate of the mutation ratio in male and female gametes

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7 January 2021

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis

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7 January 2021

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells

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7 January 2021

Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.

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7 January 2021

Germ line origins of de novo mutations in hemophilia B families

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7 January 2021

Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study.

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7 January 2021

On the origin of deletions and point mutations in Duchenne muscular dystrophy: most deletions arise in oogenesis and most point mutations result from events in spermatogenesis

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7 January 2021

Estimation of the male and female mutation rates in Duchenne muscular dystrophy (DMD)

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7 January 2021

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome

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7 January 2021

Exclusive paternal origin of new mutations in Apert syndrome

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7 January 2021

MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin

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7 January 2021

The origins, patterns and implications of human spontaneous mutation

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7 January 2021

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

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7 January 2021

Mosaicism and sporadic haemophilia: implications for carrier determination

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7 January 2021

Germline and gonosomal mosaicism in the ATR-X syndrome.

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7 January 2021

Maternal gonadal mosaicism causing ornithine transcarbamylase deficiency

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7 January 2021

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

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7 January 2021

First description of germline mosaicism in familial hypertrophic cardiomyopathy.

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7 January 2021

Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome

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7 January 2021

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism

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7 January 2021

Somatic mosaicism in von Hippel-Lindau Disease

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7 January 2021

Non-CpG methylation is prevalent in embryonic stem cells and may be mediated by DNA methyltransferase 3a.

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7 January 2021

High rate of mosaicism in tuberous sclerosis complex

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7 January 2021

Somatic mosaicism in hemophilia A: a fairly common event.

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7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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7 January 2021

A catalogue of splice junction sequences

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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7 January 2021

10.1016/S0921-8777(01)00108-2

Identifiers

DOI

1 reference

1 August 2017

1 reference