Tissue-specific splicing mutation in acute intermittent porphyria.
An inherited deficiency of porphobilinogen deaminase [porphobilinogen ammonia-lyase (polymerizing), EC 4.3.1.8] in humans is responsible for the autosomal dominant disease acute intermittent porphyria. Different classes of mutations have been described at the protein level suggesting that this is a...
Zapisane w:
| Wydane w: | Proc Natl Acad Sci U S A |
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| Główni autorzy: | , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
National Academy of Sciences
1989
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC286533/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2563167/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.2.661 |
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