Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency. Issue 12 (December 1991)

• Record Type: Journal Article
• Authors: Strautnieks, S; Rutland, P; Malcolm, S
• Is Part Of: Journal of medical genetics. Volume 28:Issue 12(1991)
• Page Start: 871
• Page End: 874
• Publication Date: 1991-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.28.12.871
• Languages: English
• ISSNs: 1468-6244

Abstract

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.