International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias-Reference-Cited by-同舟云学术

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

Published:2019-11 Issue:11 Volume:21 Page:2605-2613
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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.

Funder

Icahn School of Medicine at Mount Sinai

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0537-7.pdf

Reference49 articles.

1. Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias;Anderson,2014

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