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Article

Mutation in the gene encoding the fibroblast growth factor receptor-3 in Korean children with achondroplasia.

Acta paediatrica Japonica : Overseas edition - 1 Aug 1998

Yang S W, Kitoh H, Yamada Y, Goto H, Ogasawara N

Abstract excerpt

BACKGROUND: Achondroplasia (ACH) is the most common form of osteochondrodysplasia, and is mostly associated with a point mutation in the gene on the transmembrane domain of fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p. METHODS: We investigated the mutations in the gene encoding FGFR-3 in 15 Korean children with ACH, using polymerase chain reaction (PCR) coupled with direct sequencing. RESULTS: In...

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Identifiers

PMID: 9745773
DOI: 10.1111/j.1442-200x.1998.tb01940.x

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