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
✦ LIBER ✦
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
✍ Scribed by Rousseau, Francis; Saugier, Pascale; Merrer, Martine Le; Munnich, Arnold; Delezoide, Anne-Lise; Maroteaux, Pierre; Bonaventure, Jacky; Narcy, Françoise; Sanak, Marek
- Book ID
- 109915974
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 394 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1061-4036
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