PT  - JOURNAL ARTICLE
AU  - Strautnieks, S
AU  - Rutland, P
AU  - Malcolm, S
TI  - Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
AID  - 10.1136/jmg.28.12.871
DP  - 1991 Dec 01
TA  - Journal of Medical Genetics
PG  - 871--874
VI  - 28
IP  - 12
4099  - http://jmg.bmj.com/content/28/12/871.short
4100  - http://jmg.bmj.com/content/28/12/871.full
SO  - J Med Genet1991 Dec 01; 28
AB  - 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.