Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III.
Mackay
K
K
Department of Genetics, University of Leicester.
De Paepe
A
A
Nuytinck
L
L
Dalgleish
R
R
D000483:Alleles; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D005091:Exons; D005260:Female; D005998:Glycine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D012016:Reference Values; D015183:Restriction Mapping
D003094:Collagen; D001120:Arginine; D005998:Glycine