Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
Sztrolovics
R
R
Genetics Unit, Shriners Hospital for Crippled Children, Montreal, Quebec, Canada.
Glorieux
F H
FH
van der Rest
M
M
Roughley
P J
PJ
D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D005998:Glycine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes / Q000302:isolation & purification / Q000378:metabolism; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation; D012333:RNA, Messenger / Q000302:isolation & purification / Q000378:metabolism; D012694:Serine; D012867:Skin / Q000473:pathology; D014633:Valine
D003062:Codon; D009692:Nucleic Acid Heteroduplexes; D012333:RNA, Messenger; D012694:Serine; D003094:Collagen; D014633:Valine; D005998:Glycine