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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha: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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