Article
Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects.
European journal of haematology - 1 Sept 2010
Xue Feng, Zhang Lei, Sui Tao, Ge Jing, Gu Dongsheng, Du Weiting, Zhao Haifeng, Yang Renchi
Abstract excerpt
BACKGROUND: Hemophilia A (HA) is a common X-linked recessive bleeding disease caused by mutations in FVIII gene. The identification of mutation in HA subjects can lead to more accurate diagnosis and contribute to the genetic counseling/prenatal diagnosis. OBJECTIVES: Our objective is to identify the FVIII defects in 148 unrelated Chinese HA subjects and to analyze the potential consequence of novel mutations....
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