Article
Genetic diagnosis in Hemophilia A from southern China: five novel mutations and one preimplantation genetic analysis.
International journal of laboratory hematology - 1 Apr 2017
Chen J, Wang J, Lin X Y, Xu Y W, He Z H, Li H Y, Chen S Q, Jiang W Y
Abstract excerpt
INTRODUCTION: As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. METHODS: A total of 14 unrelated Chinese HA subjects (FVIII activity <40%), 20 carrier...
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