Concepedia

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, Gülen Eda Ütine, Koray Boduroğlu, Dilek Aktaş, Mehmet Alikaşifoğlu, Ergül Tunçbılek, Dıclehan Orhan, Filiz Tiker Bakar,

The American Journal of Human Genetics · 2010 · 319 citations · 20 references

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20

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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Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease

Francis H. Glorieux, Frank Rauch, Horacio Plotkin et al. · Journal of Bone and Mineral Research · 2000 · 517 citations

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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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Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect

Francis H. Glorieux, Leanne M. Ward, Frank Rauch et al. · Journal of Bone and Mineral Research · 2002 · 444 citations

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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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