Article
Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice.
Molecular genetics and metabolism - 1 Mar 2016
Rajagopal Abbhirami, Homan Erica P, Joeng Kyu Sang, Suzuki Masataka, Bertin Terry, Cela Racel, Munivez Elda, Dawson Brian, Jiang Ming-Ming, Gannon Frank, Crawford Susan, Lee Brendan H
Abstract excerpt
Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility and deformity. OI type VI is unique owing to the mineralization defects observed in patient biopsies. Furthermore, it has been reported to respond less well to standard therapy with bisphosphonates [1]. Others and we have previously identified SERPINF1 mutations in patients with OI type VI. SERPINF1 encodes pigment...
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