(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?

doi:10.1002/(SICI)1098-1004(1997)9:5<431::AID-HUMU9>3.0.CO;2-6

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Article

(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?

Human mutation - 1 Jan 1997

Lund A M, Skovby F, Schwartz M

Abstract excerpt

Osteogenesis imperfecta (OI) is a congenital disease of connective tissue, most often caused by single amino acid substitutions of glycine residues within the triple helical region of collagen I. Collagen I consists of two alpha 1 chains and one alpha 2 chain. Thus, a substitution in the alpha 1(...

Topics

Cells, Cultured
Collagen
Humans
Infant, Newborn
Male
Osteogenesis Imperfecta
Phenotype

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