Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype.

Starman, B J; Eyre, D; Charbonneau, H; Harrylock, M; Weis, M A; Weiss, L; Graham, J M; Byers, P H

Starman, B J; Eyre, D; Charbonneau, H; Harrylock, M; Weis, M A; Weiss, L; Graham, J M; Byers, P H.

Affiliation

Starman BJ; Department of Pathology, University of Washington, Seattle 98195.

J Clin Invest ; 84(4): 1206-14, 1989 Oct.

Article in En | MEDLINE | ID: mdl-2794057

Subject(s)

Collagen/genetics; Cysteine/genetics; Glycine/genetics; Osteogenesis Imperfecta/genetics; Adult; Amino Acid Sequence; Child; Child, Preschool; Chromatography, DEAE-Cellulose; Collagen/analysis; Electrophoresis, Polyacrylamide Gel; Female; Humans; Molecular Sequence Data; Mutation; Peptides/analysis; Phenotype

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Full text: 1 Database: MEDLINE Main subject: Osteogenesis Imperfecta / Collagen / Cysteine / Glycine Limits: Adult / Child / Child, preschool / Female / Humans Language: En Year: 1989 Type: Article

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