Literature DB >> 7728145

Molecular etiology of factor VIII deficiency in hemophilia A.

S E Antonarakis1, H H Kazazian, E G Tuddenham.   

Abstract

Hemophilia is a common X-linked coagulation disorder due to deficiency of factor VIII. The factor VIII gene has been cloned in 1984 and a large number of mutations that cause hemophilia A have been identified in the last decade. The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients with severe hemophilia A. This review lists all the factor VIII mutations identified to date and briefly discusses their functional significance.

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Year:  1995        PMID： 7728145     DOI： 10.1002/humu.1380050102

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


  22 in total

1.  Partial correction of a severe molecular defect in hemophilia A, because of errors during expression of the factor VIII gene.

Authors:  M Young; H Inaba; L W Hoyer; M Higuchi; H H Kazazian; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

2.  The Factor VIII Mutation Database on the World Wide Web: the haemophilia A mutation, search, test and resource site. HAMSTeRS update (version 3.0).

Authors:  G Kemball-Cook; E G Tuddenham
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

3.  Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28.

Authors:  E Pegoraro; J Whitaker; P Mowery-Rushton; U Surti; M Lanasa; E P Hoffman
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

4.  The locus for combined factor V-factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103.

Authors:  M Neerman-Arbez; S E Antonarakis; J L Blouin; S Zeinali; M Akhtari; Y Afshar; E G Tuddenham
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

5.  Genotypic and phenotypic features of Japanese patients with mild to moderate hemophilia A.

Authors:  Hiroshi Inaba; Keiko Shinozawa; Ikuo Seita; Manabu Otaki; Takashi Suzuki; Takeshi Hagiwara; Kagehiro Amano; Katsuyuki Fukutake
Journal:  Int J Hematol       Date:  2013-04-27       Impact factor: 2.490

6.  Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies.

Authors:  J Becker; R Schwaab; A Möller-Taube; U Schwaab; W Schmidt; H H Brackmann; T Grimm; K Olek; J Oldenburg
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

Review 7.  Blood coagulation factor VIII: An overview.

Authors:  G M Bhopale; R K Nanda
Journal:  J Biosci       Date:  2003-12       Impact factor: 1.826

8.  Intracellular retention of a factor VIII protein with an Arg2307-->Gln mutation as a cause of haemophilia A.

Authors:  J Voorberg; R T de Laaf; P M Koster; J A van Mourik
Journal:  Biochem J       Date:  1996-09-15       Impact factor: 3.857

9.  Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Authors:  R Fahsold; S Hoffmeyer; C Mischung; C Gille; C Ehlers; N Kücükceylan; M Abdel-Nour; A Gewies; H Peters; D Kaufmann; A Buske; S Tinschert; P Nürnberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

10.  The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS.

Authors:  A I Wacey; G Kemball-Cook; H H Kazazian; S E Antonarakis; R Schwaab; P Lindley; E G Tuddenham
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971
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