Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. All but one, an atypical case, were found to have a glycine-to-arginine substitution at codon 380. Of these, 150 had a G-to-A transition...

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Autori principali: Bellus, G A, Hefferon, T W, Ortiz de Luna, R I, Hecht, J T, Horton, W A, Machado, M, Kaitila, I, McIntosh, I, Francomano, C A
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1995
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801129/
https://ncbi.nlm.nih.gov/pubmed/7847369
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