Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.

Lund, A M

Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta. [electronic resource] - Human mutation 1997 - 378-82 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1059-7794

10.1002/(SICI)1098-1004(1997)9:4<378::AID-HUMU16>3.0.CO;2-# doi


Adolescent
Adult
Cells, Cultured
Child
Collagen--analysis
DNA Mutational Analysis
Exons--genetics
Fibroblasts--chemistry
Genes--genetics
Glycine--genetics
Humans
Infant
Osteogenesis Imperfecta--genetics
Peptide Mapping
Phenotype
Point Mutation--genetics
Serine--genetics
Skin--cytology