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Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene

✍ Scribed by Gary A. Bellus; Iain Mcintosh; Jinny Szabo; Arthur Aylsworth; Ilkka Kaitila; Clair A. Francomano

Book ID
119873780
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
408 KB
Volume
785
Category
Article
ISSN
0890-6564

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πŸ“œ SIMILAR VOLUMES

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A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia
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Hypochondroplasia and achondroplasia are skeletal dysplasias, characterised by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hy

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Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
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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