title: Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.
authors.affiliation: Unit of Molecular Genetics, Institute of Child Health, London, UK.
authors.forename: S
authors.initials: S
authors.lastname: Strautnieks
authors.forename: S
authors.initials: S
authors.lastname: Malcolm
mesh_terms: D000409:Alanine; D000595:Amino Acid Sequence; D001120:Arginine; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D007223:Infant; D007930:Leucine; D008297:Male; D008969:Molecular Sequence Data; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D017354:Point Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000096:biosynthesis*; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D004247:DNA; D001120:Arginine; D009954:Ornithine Carbamoyltransferase; D007930:Leucine; D000409:Alanine