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

doi:10.1007/BF00204175

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Article

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

Human genetics - 1 Jun 1991

Cohn D H, Byers P H

Abstract excerpt

To determine if some individuals with deforming varieties of osteogenesis imperfecta (OI) carry point mutations in the COL1A2 gene of type-I collagen, we examined collagens synthesized by cell strains from affected individuals for the presence of cysteine in the triple helical domain of the alpha...

Topics

Adult
Child
Collagen
Cysteine
Electrophoresis, Polyacrylamide Gel
Female
Humans
Infant, Newborn
Male
Molecular Structure
Mutation
Osteogenesis Imperfecta
Pedigree

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