Aug 1, 1995

Fibroblast-growth-factor receptor mutations in human skeletal disorders

Trends in Genetics : TIG
M Muenke, U Schell


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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Mentioned in this Paper

Fibroblast Growth Factor Receptor 1
FGFR1 wt Allele
Fibroblast Growth Factor Receptors
Skeletal System
Heart Defects Limb Shortening
Abnormal Bone Formation
Tyrosine Measurement
FGFR1 gene

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