CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

Morello, Roy

CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. [electronic resource] - Cell Oct 2006 - 291-304 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

0092-8674

10.1016/j.cell.2006.08.039 doi


Amino Acid Sequence
Animals
Bone Diseases, Metabolic--genetics
Bone and Bones--embryology
Cells, Cultured
DNA Mutational Analysis
Extracellular Matrix Proteins--genetics
Fibrillar Collagens--metabolism
Fibroblasts--metabolism
Humans
Mice
Mice, Inbred C57BL
Mice, Knockout
Molecular Chaperones
Molecular Sequence Data
Mutation
Osteochondrodysplasias--genetics
Osteogenesis Imperfecta--genetics
Procollagen-Proline Dioxygenase--metabolism
Proteins--genetics
RNA, Messenger--metabolism
Time Factors