TY  - GEN
AU  - Wirtz,M K
AU  - Rao,V H
AU  - Glanville,R W
AU  - Labhard,M E
AU  - Pretorius,P J
AU  - de Vries,W N
AU  - de Wet,W J
AU  - Hollister,D W
TI  - A cysteine for glycine substitution at position 175 in an alpha 1 (I) chain of type I collagen produces a clinically heterogeneous form of osteogenesis imperfecta
SN  - 0300-8207
PY  - 1993///0901
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Chromatography, High Pressure Liquid
KW  - Collagen
KW  - chemistry
KW  - Cysteine
KW  - analysis
KW  - DNA
KW  - genetics
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Glycine
KW  - Humans
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Osteogenesis Imperfecta
KW  - Phenotype
KW  - Procollagen
KW  - Protein Processing, Post-Translational
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/10.3109/03008209309061961
ER  -