Article
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.
Endocrine journal - 1 Dec 1998
Fofanova O V, Takamura N, Kinoshita E, Meerson E M, Iljina V K, Nechvolodova O L, Evgrafov O V, Peterkova V A, Yamashita S
Abstract excerpt
To carry out the genetic screening for the common mutation in the first tyrosine kinase domain (TK1) of the fibroblast growth factor receptor 3 gene (FGFR3) in a Russian population, a cohort of 16 patients with hypochondroplasia diagnosed previously were studied, among them twelve familial cases and four sporadic cases. The heterozygous N540K FGFR3 mutation was detected in 9 cases (56.3%) due to that C1659A...
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