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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Publicat a:Hum Mutat
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Article
Accés en línia: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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