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

First Author  Muenke M Year  1995
Journal  Trends Genet Volume  11
Issue  8 Pages  308-13
PubMed ID  8585128 Mgi Jnum  J:42293
Mgi Id  MGI:1095506 Doi  10.1016/s0168-9525(00)89088-5
Citation  Muenke M, et al. (1995) Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet 11(8):308-13
abstractText  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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