doi: 10.1136/jmg.28.12.871.
Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency
Affiliations
- PMID: 1757964
- PMCID: PMC1017166
- DOI: 10.1136/jmg.28.12.871
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Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency
J Med Genet.
1991 Dec.
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.
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