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 pat...
Topics
- Achondroplasia
- Asian People
- China
- Fibroblast Growth Factors
- Humans
- Mutation
- Polymorphism, Single-Stranded Conformational
- Protein-Tyrosine Kinases
- Receptor, Fibroblast Growth Factor, Type 3
- Receptors, Fibroblast Growth Factor