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Identification and Characterization of 40 Novel Hydroxymethylbilane Synthase Mutations that Cause Acute Intermittent Porphyria
Acute intermittent porphyria (AIP), an autosomal dominant disorder due to the half-normal activity of hydroxymethylbilane synthase (HMBS), is characterized by acute neurovisceral attacks that are precipitated by factors that induce heme biosynthesis. Molecular diagnosis is the most sensitive and spe...
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| Publicado no: | J Inherit Metab Dis |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6162174/ https://ncbi.nlm.nih.gov/pubmed/30740734 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12040 |
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