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, 28 (12), 871-4

Arginine 109 to Glutamine Mutation in a Girl With Ornithine Carbamoyl Transferase Deficiency

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Arginine 109 to Glutamine Mutation in a Girl With Ornithine Carbamoyl Transferase Deficiency

S Strautnieks et al. J Med Genet.

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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