Article
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.
The Turkish journal of pediatrics - 1 Jan 2000
Pehlivan Sacide, Ozkinay Ferda, Okutman Ozlem, Coğulu Ozgür, Ozcan Ali, Cankaya Tufan, Ulgenalp Ayfer
Abstract excerpt
Achondroplasia, the most common form of skeletal dysplasia in man, has autosomal dominant inheritance and causes severe dwarfism. More than 90% of patients with achondroplasia have a G to A transversion or G to C transversion at position 1138 of the fibroblast growth factor receptor-3 (FGFR3) gene resulting in the substitution of an arginine for a glycine residue at position 380 (G380R) of the FGFR3 protein. In...
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