Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans
β Scribed by A P Usha; D H Lester; J L Williams
- Book ID
- 108632871
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 224 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0268-9146
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Fibroblast growth factor receptor 3 (FGFR3) is one of the four distinct membraneβspanning tyrosine kinase receptors for fibroblast growth factors. The FGFR3 is a negative regulator of endochondral ossification and mutations in the __FGFR3__ gene have been found in patients of human hereditary diseas
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
## Communicated by Lap-Chee Tsui Homozygous achondroplasia is a neonatal lethal condition which can only be diagnosed in the first trimester of pregnancy by molecular analysis. The vast majority of patients with achondroplasia have a GΓA substitution at position 1138 of the fibroblast growth facto