tailieunhanh - The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

The genetic mutation resulting in osteogenesis imperfecta (OI) type V was recently characterised as a single point mutation ( > T) in the 5’ untranslated region (UTR) of IFITM5, a gene encoding a transmembrane protein with expression restricted to skeletal tissue. |