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The substitution of arginine for glycine 85 of the alpha 1(I) procollagen chain results in mild osteogenesis imperfecta. The mutation provides direct evidence for three discrete domains of cooperative melting of intact type I collagen.
J Biol Chem. 1991 Nov 15;266(32):21827-32.
J Biol Chem. 1991.
PMID: 1718984
Free article.
Successful aortic valve replacement for aortic regurgitation associated with osteogenesis imperfecta.
Weisinger B, Glassman E, Spencer FC, Berger A.
Weisinger B, et al.
Br Heart J. 1975 May;37(5):475-7. doi: 10.1136/hrt.37.5.475.
Br Heart J. 1975.
PMID: 1137656
Free PMC article.
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