Associated Papers
Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.
Udupa P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2023
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Baldridge D et al.
Human Mutation, 2008
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
Barnes AM et al.
The New England Journal of Medicine, 2006
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