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- W2015136441 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." @default.
- W2015136441 created "2016-06-24" @default.
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- W2015136441 date "1991-12-01" @default.
- W2015136441 modified "2023-09-23" @default.
- W2015136441 title "Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency." @default.
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- W2015136441 doi "https://doi.org/10.1136/jmg.28.12.871" @default.
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