Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain

Multiple human skeletal and craniosynostosis disorders, including Crouzon, Pfeiffer, Jackson–Weiss, and Apert syndromes, result from numerous point mutations in the extracellular region of fibroblast growth factor receptor 2 (FGFR2). Many of these mutations create a free cysteine residue that potent...

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Main Authors: Robertson, Scott C., Meyer, April N., Hart, Kristen C., Galvin, Brendan D., Webster, Melanie K., Donoghue, Daniel J.
Formato: Artigo
Idioma:Inglês
Publicado: The National Academy of Sciences 1998
Assuntos:
Biological Sciences
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC22530/
https://ncbi.nlm.nih.gov/pubmed/9539778
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