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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Genet Med
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2019
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky