Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients
β Scribed by Shiro Ikegawa; Yoshimitsu Fukushima; Minoru Isomura; Fumio Takada; Yusuke Nakamura
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 388 KB
- Volume
- 96
- Category
- Article
- ISSN
- 0340-6717
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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
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