A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.
We have determined the mutation in a patient with acute intermittent porphyria. The mRNA coding for porphobilinogen deaminase was reverse transcribed then the cDNA was enzymatically amplified in vitro. Upon sequencing of a polymerase chain reaction product of abnormal size we found that this fragmen...
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| Publicado en: | Nucleic Acids Res |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Oxford University Press
1989
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| Acceso en línea: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC318356/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2789372/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/17.16.6637 |
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