International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias

With the advent of precision and genomic medicine, a critical issue is whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria...

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Publicat a:Genet Med
Autors principals: Chen, Brenden, Whatley, Sharon, Badminton, Michael, Aarsand, Aasne K., Anderson, Karl E., Bissell, D. Montgomery, Bonkovsky, Herbert L., Cappellini, Maria D., Floderus, Ylva, Friesema, Edith C. H., Gouya, Laurent, Harper, Pauline, Kauppinen, Raili, Loskove, Yonina, Martásek, Pavel, Phillips, John D., Puy, Hervé, Sandberg, Sverre, Schmitt, Caroline, To-Figueras, Jordi, Weiss, Yedidyah, Yasuda, Makiko, Deybach, Jean-Charles, Desnick, Robert J.
Format: Artigo
Idioma:Inglês
Publicat: 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7229570/
https://ncbi.nlm.nih.gov/pubmed/31073229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0537-7
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