Article
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
BMC medical genetics - 20 Jun 2008
Lin Shin-Yu, Su Yi-Ning, Hung Chia-Cheng, Tsay Woei, Chiou Shyh-Shin, Chang Chieh-Ting, Ho Hong-Nerng, Lee Chien-Nan
Abstract excerpt
BACKGROUND: Hemophilia A represents the most common and severe inherited hemorrhagic disorder. It is caused by mutations in the F8 gene, which leads to a deficiency or dysfunctional factor VIII protein, an essential cofactor in the factor X activation complex. METHODS: We used long-distance polym...
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