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Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.
Acute intermittent porphyria (AIP) is the major autosomal dominant form of acute hepatic porphyrias. The disease is due to mutations in the gene encoding for porphobilinogen (PBG) deaminase and is characterized by life-threatening neurovisceral attacks, often precipitated by drugs, fasting, cyclical...
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| Autors principals: | , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
1997
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1716106/ https://ncbi.nlm.nih.gov/pubmed/9199558 |
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