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. [electronic resource]
- Connective tissue research 1993
- 1-11 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0300-8207
10.3109/03008209309061961 doi
Amino Acid Sequence Base Sequence Chromatography, High Pressure Liquid Collagen--chemistry Cysteine--analysis DNA--genetics Female Fibroblasts--metabolism Glycine--analysis Humans Middle Aged Molecular Sequence Data Mutation--genetics Osteogenesis Imperfecta--genetics Phenotype Procollagen--analysis Protein Processing, Post-Translational