Article
Analysis of clinical manifestations, mutant gene and encoded protein in two Chinese MYH9-related disease families.
Clinica chimica acta; international journal of clinical chemistry - 1 Nov 2006
Yi Yan, Sen Zhang Guang, Xu Min, San Ling Zhu, Ru Shao Xiu, Zeng Li Jia, Ma Jun
Abstract excerpt
BACKGROUND: MYH9-related disease is a rare autosomal dominant disorder characterized by the triad of giant platelet, thrombocytopenia and inclusion bodies in neutrophil. In recent years, much progress has been made in the investigation of its clinical feature and pathogenesis. METHODS: Clinical manifestations were analyzed in two Chinese MYH9-related disease families. Polymerase chain reaction (PCR), DNA...
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