Article
[Clinical manifestations and gene mutations of a Chinese family with MYH9-related syndrome].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Sept 2012
Shi Rui-Ming, Cao Xiao-Qin, Luo Shu-Fang, Fang Xia-Ling, Wang Rong-Hua, Liu Zhi-Gang
Abstract excerpt
OBJECTIVE: To explore the method for early diagnosis and pathogenesis of MYH9-related syndrome through analysis of the clinical manifestation and gene mutation of a Chinese family with MYH9-related syndrome. METHODS: Peripheral blood samples were collected from a three-generation Chinese family with MYH9-related syndrome (11 individuals, including 3 patients) and 100 healthy individuals. Polymerase chain reaction...
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