An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen.
Shapiro, J R
An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. [electronic resource] - The Journal of clinical investigation Feb 1992 - 567-73 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0021-9738
10.1172/JCI115622 doi
Adolescent
Adult
Base Sequence
Child
Child, Preschool
Collagen--analysis
Cysteine--analysis
DNA--analysis
Electrophoresis, Polyacrylamide Gel
Female
Glycine--analysis
Humans
Molecular Sequence Data
Mutation
Osteogenesis Imperfecta--genetics
Osteoporosis--genetics
Protein Conformation
An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen. [electronic resource] - The Journal of clinical investigation Feb 1992 - 567-73 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0021-9738
10.1172/JCI115622 doi
Adolescent
Adult
Base Sequence
Child
Child, Preschool
Collagen--analysis
Cysteine--analysis
DNA--analysis
Electrophoresis, Polyacrylamide Gel
Female
Glycine--analysis
Humans
Molecular Sequence Data
Mutation
Osteogenesis Imperfecta--genetics
Osteoporosis--genetics
Protein Conformation