title: Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
abstract: The high new mutation rate and the wide spectrum of mutations found in patients with ornithine carbamoyltransferase (OCT) deficiency means that direct mutation analysis is essential for providing accurate carrier detection and prenatal diagnosis in affected families. We present our strategy for mutation detection in the OCT gene and summarize the results from 31 families with a confirmed diagnosis and 34 families with a suspected diagnosis of OCT deficiency, and describe 14 previously unreported mutations.
authors: Clinical Molecular Genetics, Great Ormond Street Hospital for Children NHS Trust, London, UK. sally.genet@gosh-tr.nthames.nhs.uk
authors: S
authors: S
authors: Genet
authors: T
authors: T
authors: Cranston
authors: H R
authors: HR
authors: Middleton-Price
mesh_terms: D017398:Alternative Splicing; D018389:Codon, Nonsense; D017353:Gene Deletion; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics; D017354:Point Mutation
chemical_list: D018389:Codon, Nonsense; D009954:Ornithine Carbamoyltransferase