Sample records for 隐性突变 (recessive mutations)
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Sample records 1 - 15 shown.



15

Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome

Chan, KW; Lee, TL; Chung, BHY; Yang, X; Lau, YL

The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indi...

DRIVER (Chinese)