RT Journal Article
SR Electronic
T1 Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 871
OP 874
DO 10.1136/jmg.28.12.871
VO 28
IS 12
A1 Strautnieks, S
A1 Rutland, P
A1 Malcolm, S
YR 1991
UL http://jmg.bmj.com/content/28/12/871.abstract
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.