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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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| Publicado no: | Intractable Rare Dis Res |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2020
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| Assuntos: | |
| Acesso em linha: | 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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