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

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 mut...

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Autores principales: Strautnieks, S, Rutland, P, Malcolm, S
Formato: Artigo
Lenguaje:Inglês
Publicado: 1991
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1017166/
https://ncbi.nlm.nih.gov/pubmed/1757964
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