Article
A strategy for the molecular diagnosis in hemophilia a in Chinese population.
Cell biochemistry and biophysics - 1 Apr 2013
He Zhihui, Chen Juan, Xu Shiyan, Chen Shufen, Xiao Xiao, Li Hongyi, Guo Yibin, Jiang Weiying
Abstract excerpt
Hemophilia A is an x-linked recessive inherited bleeding disorder. So far, more than 1,885 disease-causing mutations of factor VIII gene have been identified. Clinic confers a great challenge for the molecular diagnosis. We aim to make a better strategy for the molecular diagnosis in Hemophilia A. First, factor VIII intron 22 inversion and intron 1 inversion mutations were detected using Inversion-PCR and...
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