A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals.
Rose
N J
NJ
Department of Genetics, University of Leicester, UK.
Mackay
K
K
Byers
P H
PH
Dalgleish
R
R
D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004277:DNA, Single-Stranded / Q000235:genetics; D005260:Female; D005998:Glycine / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011347:Procollagen / Q000737:chemistry / Q000235:genetics; D015183:Restriction Mapping; D012694:Serine / Q000235:genetics*
D017931:DNA Primers; D004277:DNA, Single-Stranded; D011347:Procollagen; D012694:Serine; D003094:Collagen; D005998:Glycine