title: Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
abstract: We studied DNA from 29 families with at least one member with ornithine carbamoyl transferase (OCT) deficiency and have found a mutation in the TaqI site within exon 5 of the OCT gene in a female presenting at the age of 21 months. Hybridisation with site specific oligonucleotides shows that the mutation is a C to T substitution resulting in a glutamine for arginine substitution at amino acid 109.
authors.affiliation: Mothercare Unit of Paediatric Genetics, Institute of Child Health, London.
authors.forename: S
authors.initials: S
authors.lastname: Strautnieks
authors.forename: P
authors.initials: P
authors.lastname: Rutland
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D000483:Alleles; D001120:Arginine; D001483:Base Sequence; D005091:Exons; D005260:Female; D005973:Glutamine; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D015345:Oligonucleotide Probes; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping
chemical_list: D015345:Oligonucleotide Probes; D005973:Glutamine; D001120:Arginine; D009954:Ornithine Carbamoyltransferase