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Recent advances in the epidemiology and genetics of acute intermittent porphyria

Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, a...

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Detalles Bibliográficos
Publicado en:Intractable Rare Dis Res
Main Authors: Ma, Liyan, Tian, Yu, Peng, Chenxing, Zhang, Yiran, Zhang, Songyun
Formato: Artigo
Idioma:Inglês
Publicado: International Research and Cooperation Association for Bio & Socio-Sciences Advancement 2020
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7586877/
https://ncbi.nlm.nih.gov/pubmed/33139978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2020.03082
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