Article
[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 1999
Zhao P, Ma H, Wang Y, Mi Z, Wu Y, Jiang M, Gao H, Li Y
Abstract excerpt
OBJECTIVE: To evaluate whether mutation in the exon 10 of the fibroblast growth factor receptor 3(FGFR3) gene in common in Chinese patients with achondroplasia. METHODS: Genomic DNA from seven sporadic cases of achondroplasia was studied by using PCR-SSCP and restriction enzymes. RESULTS: All patients carried the same glycine-to-arginine mutation at codon 380(G380R) of the transmembrane domain of FGFR3....
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