Author:
Vetter U.,Pontz B.,Zauner E.,Brenner R. E.,Spranger J.
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Orthopedics and Sports Medicine,Endocrinology, Diabetes and Metabolism
Reference22 articles.
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2. Vogel BE, Minor RR, Freund M, Prockop DJ (1987) A point mutation in a type I procollagen gene converts glycine 748 of the ? 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. J Biol Chem 262:14737?14744
3. Wenstrup RJ, Cohn DH, Cohen T, Byers P (1988) Arginine for glycine substitution in the triple helical domain of the products of one ?2 (I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. J Biol Chem 263:7734?7740
4. Sillence DO, Senn AS, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Gen 16:101?116
5. Byers P (1988) Osteogenesis imperfecta: an update. Growth, Genet Horm 4:1?5
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