The factor IX gene as a model for analysis of human germline mutations: an update (Q41170350)

27 September 2017

1 reference

title

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

1 reference

27 September 2017

Sommer SS

1

1 reference

PubMed ID

8875257

27 September 2017

Ketterling RP

series ordinal

2

1 reference

27 September 2017

1 January 1996

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27 September 2017

Human Molecular Genetics

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27 September 2017

5 Spec No

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27 September 2017

1505-1514

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The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots

27 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

How precisely can data from transgenic mouse mutation-detection systems be extrapolated to humans?: lesions from the human factor IX gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Haemophilia B (sixth edition): a database of point mutations and short additions and deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Ultrarapid mutation detection by multiplex, solid-phase chemical cleavage

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Suggestions concerning the relationship between mutant frequency and mutation rate at the hprt locus in human peripheral T-lymphocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Gene therapy and the hemophilias

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Model for the participation of quasi-palindromic DNA sequences in frameshift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Structural intermediates of deletion mutagenesis: a role for palindromic DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Recombination at the human alpha-globin gene cluster: sequence features and topological constraints

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

A novel haemophilia B defect due to partial duplication of the factor IX gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Germ line origins of de novo mutations in hemophilia B families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Male-driven evolution of DNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Weak male-driven molecular evolution in rodents

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Estimating the intensity of male-driven evolution in rodents by using X-linked and Y-linked Ube 1 genes and pseudogenes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Germline mosaicism in a female who seemed to be a carrier by sequence analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

"Founder" effect in different families with haemophilia B mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Missense mutations and the magnitude of functional deficit: the example of factor IX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Dystrophin. The gene and its product

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

The rate with which spontaneous mutation alters the electrophoretic mobility of polypeptides

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

De novo mutations producing unstable Hbs or Hbs M. II. Direct estimates of minimum nucleotide mutation rates in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Clinical implications of the p53 tumor-suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Endogenous DNA damage as related to cancer and aging

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Hypermutability and mismatch repair deficiency in RER+ tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Genetic mapping of a locus predisposing to human colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Molecular defects in haemophilia B: detection by direct restriction enzyme analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Neurofibromatosis Type 1 Due to Germ-Line Mosaicism in a Clinically Normal Father

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

Parental origin of mutations of the retinoblastoma gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F5.SUPPLEMENT_1.1505

10.1093/HMG/5.SUPPLEMENT_1.1505

21 January 2018

Identifiers

DOI

1 reference

27 September 2017

1 reference

PubMed ID

8875257