Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.

Abstract excerpt

Achondroplasia (ACH) is a genetic disorder with autosomal dominant inheritance and is the cause of one of the most common forms of short limb dwarfism in humans. Mutations of special sites in the fibroblast growth factor receptor-3 gene (FGFR3) are reported as a cause of ACH, and almost 98% of cases are caused by mutations in nucleotide 1138 (Gly380Arg), with 97% involving a c.1138G>A mutation and 1% involving a...

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