Profound ligand-independent kinase activation of fibroblast growth factor receptor 3 by the activation loop mutation responsible for a lethal skeletal dysplasia, thanatophoric dysplasia type II.

Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3). We demonstrate here that this mutation results in profound c...

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Main Authors: Webster, M K, D'Avis, P Y, Robertson, S C, Donoghue, D J
Formato: Artigo
Idioma:Inglês
Publicado em: 1996
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC231404/
https://ncbi.nlm.nih.gov/pubmed/8754806
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