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. |