A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta.
Rose
N J
NJ
Department of Genetics, University of Leicester, UK.
Mackay
K
K
Byers
P H
PH
Dalgleish
R
R
D000595:Amino Acid Sequence; D001483:Base Sequence; D003094:Collagen / Q000235:genetics*; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005260:Female; D005804:Genes, Lethal; D005971:Glutamates; D018698:Glutamic Acid; D005998:Glycine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
D017931:DNA Primers; D005971:Glutamates; D018698:Glutamic Acid; D003094:Collagen; D004247:DNA; D005998:Glycine