Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
Open Access
- 1 December 1991
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 28 (12) , 871-874
- https://doi.org/10.1136/jmg.28.12.871
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.Keywords
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