Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A-Reference-Cited by-同舟云学术

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A

Published:2005-09 Issue:3 Volume:26 Page:249-254
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Bogdanova Nadja,Markoff Arseni,Pollmann Hartmut,Nowak-Göttl Ulrike,Eisert Roswith,Wermes Cornelia,Todorova Albena,Eigel Antonin,Dworniczak Bernd,Horst Jürgen

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. Molecular etiology of factor VIII deficiency in hemophilia A;Antonarakis;Hum Mutat,1995

2. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia;Bagnall;Blood,2002

3. 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;Becker;Am J Hum Genet,1996

4. Seven novel and four recurrent point mutations in the factor VIII (F8) gene;Bogdanova;Hum Mutat,2001

5. Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A;Bogdanova;Hum Mutat,2002

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