Concepedia

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

Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes, MaryAnn Weis, Melissa A. Scott, Sergey Leikin, Elena Makareeva, Natalia V. Kuznetsova, Kenneth N. Rosenbaum, Cynthia J. Tifft,

Nature Genetics · 2007 · 483 citations · 27 references

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References

27

Genetic heterogeneity in osteogenesis imperfecta.

David Sillence, A Senn, D. M. Danks · Journal of Medical Genetics · 1979 · 2.2K citations · Full text

, , +16

Nelson textbook of pediatrics

I. C. Venna · The Indian Journal of Pediatrics · 2003 · 1.4K citations

, , +5

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

, , +12

Nelson's Textbook of Pediatrics 17th ed

Richard E. Behrman, et all · 2003 · 444 citations

, , +12

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

, , +17