TY  - GEN
AU  - Shapiro,J R
AU  - Stover,M L
AU  - Burn,V E
AU  - McKinstry,M B
AU  - Burshell,A L
AU  - Chipman,S D
AU  - Rowe,D W
TI  - 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
SN  - 0021-9738
PY  - 1992///0318
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Child
KW  - Child, Preschool
KW  - Collagen
KW  - analysis
KW  - Cysteine
KW  - DNA
KW  - Electrophoresis, Polyacrylamide Gel
KW  - Female
KW  - Glycine
KW  - Humans
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Osteogenesis Imperfecta
KW  - genetics
KW  - Osteoporosis
KW  - Protein Conformation
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1172/JCI115622
ER  -