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Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria
Acute intermittent porphyria (AIP) results from a decreased activity of hepatic hydroxymethylbilane synthase (HMBS), the third enzyme in the heme biosynthetic pathway. AIP is an autosomal dominant disorder with incomplete penetrance, characterized by acute neurovisceral attacks precipitated by sever...
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| Publicado no: | Genes (Basel) |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7464722/ https://ncbi.nlm.nih.gov/pubmed/32806544 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11080924 |
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