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Recent advances in the epidemiology and genetics of acute intermittent porphyria
Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, a...
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| Pubblicato in: | Intractable Rare Dis Res |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7586877/ https://ncbi.nlm.nih.gov/pubmed/33139978 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03082 |
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