Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

Acute Intermittent Porphyria results from hydroxymethylbilane synthase (HMBS) mutations that markedly decrease HMBS enzymatic activity. This dominant disease is diagnosed when heterozygotes have life-threatening acute attacks, while most heterozygotes remain asymptomatic and undiagnosed. Although &g...

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Pubblicato in:Hum Mutat
Autori principali: Chen, Brenden, Solis-Villa, Constanza, Hakenberg, Jörg, Qiao, Wanqiong, Srinivasan, Ramakrishnan R., Yasuda, Makiko, Balwani, Manisha, Doheny, Dana, Peter, Inga, Chen, Rong, Desnick, Robert J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5063710/
https://ncbi.nlm.nih.gov/pubmed/27539938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23067
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