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]
Producer: 19930901Description: 1-11 p. digitalISSN:- 0300-8207
- 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
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
There are no comments on this title.
Log in to your account to post a comment.