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
AM
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
Skovby
F
F
Schwartz
M
M
D000293:Adolescent; D000328:Adult; D002478:Cells, Cultured; D002648:Child; D003094:Collagen / Q000032:analysis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005347:Fibroblasts / Q000737:chemistry; D005796:Genes / Q000235:genetics; D005998:Glycine / Q000235:genetics*; D006801:Humans; D007223:Infant; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D010449:Peptide Mapping; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D012867:Skin / Q000166:cytology
D012694:Serine; D003094:Collagen; D005998:Glycine