title: 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.
authors.affiliation: Department of Genetics, University of Leicester, UK.
authors.forename: N J
authors.initials: NJ
authors.lastname: Rose
authors.forename: K
authors.initials: K
authors.lastname: Mackay
authors.forename: P H
authors.initials: PH
authors.lastname: Byers
authors.forename: R
authors.initials: R
authors.lastname: Dalgleish
mesh_terms: 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
chemical_list: D017931:DNA Primers; D005971:Glutamates; D018698:Glutamic Acid; D003094:Collagen; D004247:DNA; D005998:Glycine