AR07713/AR/NIAMS NIH HHS/United States[Grants and Funding] - Search Results

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Subject: AR07713/AR/NIAMS NIH HHS/United States[Grants and - PubMed

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1988	1
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Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta.

Cohn DH, Apone S, Eyre DR, Starman BJ, Andreassen P, Charbonneau H, Nicholls AC, Pope FM, Byers PH. Cohn DH, et al. J Biol Chem. 1988 Oct 15;263(29):14605-7. J Biol Chem. 1988. PMID: 3170557 Free article.

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Cohn DH, Starman BJ, Blumberg B, Byers PH. Cohn DH, et al. Am J Hum Genet. 1990 Mar;46(3):591-601. Am J Hum Genet. 1990. PMID: 2309707 Free PMC article.

Cysteine in the triple helical domain of the pro alpha 2(I) chain of type-I collagen in nonlethal forms of osteogenesis imperfecta.

Cohn DH, Byers PH. Cohn DH, et al. Hum Genet. 1991 Jun;87(2):167-72. doi: 10.1007/BF00204175. Hum Genet. 1991. PMID: 2066103

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