Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R. Sporadic cases of achondroplasia have been associated with advanced paternal age, suggesti...

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書誌詳細
主要な著者: Wilkin, D J, Szabo, J K, Cameron, R, Henderson, S, Bellus, G A, Mack, M L, Kaitila, I, Loughlin, J, Munnich, A, Sykes, B, Bonaventure, J, Francomano, C A
フォーマット: Artigo
言語:Inglês
出版事項: 1998
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377389/
https://ncbi.nlm.nih.gov/pubmed/9718331
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