Article
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrix.
Human mutation - 1 Nov 2012
Barnes Aileen M, Cabral Wayne A, Weis MaryAnn, Makareeva Elena, Mertz Edward L, Leikin Sergey, Eyre David, Trujillo Carlos, Marini Joan C
Abstract excerpt
Recessive osteogenesis imperfecta (OI) is caused by defects in genes whose products interact with type I collagen for modification and/or folding. We identified a Palestinian pedigree with moderate and lethal forms of recessive OI caused by mutations in FKBP10 or PPIB, which encode endoplasmic reticulum resident chaperone/isomerases FKBP65 and CyPB, respectively. In one pedigree branch, both parents carry a...
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