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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Bibliografiske detaljer
Udgivet i:J Med Genet
Main Authors: Strautnieks, S, Rutland, P, Malcolm, S
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Publishing Group 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017166/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1757964/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.12.871
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