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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

โœ Scribed by Rousseau, Francis; Bonaventure, Jacky; Legeai-Mallet, Laurence; Pelet, Anna; Rozet, Jean-Michel; Maroteaux, Pierre; Merrer, Martine Le; Munnich, Arnold


Book ID
109789718
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
494 KB
Volume
371
Category
Article
ISSN
0028-0836

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Common mutations in the fibroblast growt
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The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (G380R) in the fibroblast growth factor receptor 3 (FGFR-3) gene has been followed by the detection of common FGFR-3 mutations in two clinically related disorde