Wirtz, M K

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