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. 1991 Dec;28(12):871–874. doi: 10.1136/jmg.28.12.871

Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.

S Strautnieks 1, P Rutland 1, S Malcolm 1
PMCID: PMC1017166  PMID: 1757964

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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