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Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.
Point mutations in the X-linked ornithine transcarbamylase (OTC) gene have been detected at the same Taq I restriction site in 3 of 24 unrelated probands with OTC deficiency. A de novo mutation could be traced in all three families to an individual in a prior generation, confirming independent recur...
Bewaard in:
| Hoofdauteurs: | , , , |
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| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
1988
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC442691/ https://ncbi.nlm.nih.gov/pubmed/3170748 |
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