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 en:J Inherit Metab Dis
Autores principales: Chen, Brenden, Solis-Villa, Constanza, Erwin, Angelika L., Balwani, Manisha, Nazrenko, Irina, Phillips, John D., Desnick, Robert J., Yasuda, Makiko
Formato: Artigo
Lenguaje:Inglês
Publicado: 2019
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Article
Acceso en línea: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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