Article
Prenatal diagnosis of achondroplasia using the nested polymerase chain reaction with modified primer sets.
Fetal diagnosis and therapy - 1 Jan 2000
Sawai H, Komori S, Tanaka H, Bessho T, Koyama K
Abstract excerpt
Achondroplasia (ACH) is the most frequent form of short-limb dwarfism. Recently, the gene mutation responsible for ACH has been identified in the transmembrane domain of the fibroblast growth factor receptor 3 gene. The cause of ACH is a point mutation at nucleotide 1138 of the cDNA, resulting in...
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