Arginine 109 to glutamine mutation in a girl with ...[J Med Genet. 1991]

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1: J Med Genet. 1991 Dec;28(12):871-4. Links

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

Strautnieks S, Rutland P, Malcolm S.

Mothercare Unit of Paediatric Genetics, Institute of Child Health, London.

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.

PMID: 1757964 [PubMed - indexed for MEDLINE]

PMCID: PMC1017166

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
J Inherit Metab Dis. 1996; 19(1):31-42.

[J Inherit Metab Dis. 1996]
A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.
Hum Genet. 1991 May; 87(1):28-32.

[Hum Genet. 1991]
A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.
Hum Mol Genet. 1994 May; 3(5):831-2.

[Hum Mol Genet. 1994]
ReviewMutations and polymorphisms in the human ornithine transcarbamylase gene.
Hum Mutat. 1993; 2(3):174-8.

[Hum Mutat. 1993]
ReviewThe ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
Am J Med Genet. 1997 Sep 5; 71(4):378-83.

[Am J Med Genet. 1997]
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