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

Brenden Chen, Sharon Whatley, Michael Badminton, Aasne K. Aarsand, Karl E. Anderson, D. Montgomery Bissell, Herbert L. Bonkovsky, Maria D. Cappellini, Ylva Floderus, Edith C.H. Friesema, Laurent Gouya, Pauline Harper, Raili Kauppinen, Yonina Loskove, Pavel Martásek, John D. Phillips, Hervé Puy, Sverre Sandberg, Caroline Schmitt, Jordi To-FiguerasYedidyah Weiss, Makiko Yasuda, Jean Charles Deybach, Robert J. Desnick

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Fingerprint

Dive into the research topics of 'International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias'. Together they form a unique fingerprint.

INIS

Keyphrases

Medicine and Dentistry