Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

著者: Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman Alswaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie Pepin, Mary Ann Weis, David R. Eyre, Peter H. Byers - The American Journal of Human Genetics 2010 被引用: 359