Concepedia

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

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 · 359 citations · 21 references

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21

Osteogenesis imperfecta

Frank Rauch, Francis H. Glorieux · The Lancet · 2004 · 1.2K citations

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CRTAP Is Required for Prolyl 3- Hydroxylation and Mutations Cause Recessive Osteogenesis Imperfecta

Roy Morello, Terry Bertin, Yuqing Chen et al. · Cell · 2006 · 530 citations · Full text

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Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes et al. · Nature Genetics · 2007 · 483 citations · Full text

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Embryonic Lethality of Molecular Chaperone Hsp47 Knockout Mice Is Associated with Defects in Collagen Biosynthesis

N. Nagai, Masanori Hosokawa, Shigeyoshi Itohara et al. · The Journal of Cell Biology · 2000 · 366 citations · Full text

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Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta

Aileen M. Barnes, Weizhong Chang, Roy Morello et al. · New England Journal of Medicine · 2006 · 350 citations · Full text

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