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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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| Publicado no: | J Med Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
1991
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| Assuntos: | |
| Acesso em linha: | 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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