Article
[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2000
Zhang Y, Yu W, Shen M, Fang Q, Fan M
Abstract excerpt
OBJECTIVE: To study the gene mutation of Chinese patients with achondroplasia(ACH) and to set up a simple and rapid molecular diagnostic method to differentiate ACH from other similar genetic dwarfism. METHODS: The specific fragment of fibroblast growth factor receptor 3(FGFR3) transmembrane domain was amplified from dried blood spots of 21 patients with ACH and 6 suspicious patients with ACH by polymerase chain...
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