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Fibroblast-growth-factor receptor mutations in human skeletal disorders.

Authors
  • Muenke, M
  • Schell, U
Type
Published Article
Journal
Trends in Genetics
Publisher
Elsevier
Publication Date
Aug 01, 1995
Volume
11
Issue
8
Pages
308–313
Identifiers
PMID: 8585128
Source
Medline
License
Unknown

Abstract

Fibroblast-growth-factor receptors (FGFRs), members of the tyrosine-kinase receptor family, play a crucial role in signal transduction and development. Recently, unique mutations in three human FGFR-encoding genes (FGFR1-3) have been identified as the cause of a variety of skeletal disorders. Comparison of these specific mutations with the resulting phenotypes is now providing new insight into the role of these receptors in normal and abnormal bone development.

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