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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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| Auteurs principaux: | , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
1995
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1801129/ https://ncbi.nlm.nih.gov/pubmed/7847369 |
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