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

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Title: International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.
Authors: Chen B; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Whatley S; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Badminton M; Department of Medical Biochemistry and Immunology, University Hospital of Wales, Cardiff, UK., Aarsand AK; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway., Anderson KE; Department of Preventive Medicine and Community Health, University of Texas Medical Branch, Galveston, TX, USA., Bissell DM; Department of Medicine, University of California, San Francisco, CA, USA., Bonkovsky HL; Department of Medicine, Wake Forest University, Winston-Salem, NC, USA., Cappellini MD; Dipartimento di Medicina Interna, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy., Floderus Y; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Friesema ECH; Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disorders, Department of Internal Medicine, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Gouya L; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France., Harper P; Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden., Kauppinen R; Porphyria Research Unit, Department of Medicine, University Central Hospital of Helsinki, Helsinki, Finland., Loskove Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Martásek P; First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Phillips JD; Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA., Puy H; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France., Sandberg S; Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, Bergen, Norway.; The Norwegian Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconness Hospital, Bergen Medical Faculty, University of Bergen, Bergen, Norway., Schmitt C; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France., To-Figueras J; Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, Barcelona, Spain., Weiss Y; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Yasuda M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Deybach JC; Centre Français des Porphyries, Hôpital Louis Mourier, Assistance Publique-Hôpitaux de Paris, Colombes and Centre de Recherche sur l'Inflammation, UMR1149 INSERM, Université Paris Diderot, Paris, France. jc.deybach@me.com., Desnick RJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. robert.desnick@mssm.edu.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Nov; Vol. 21 (11), pp. 2605-2613. Date of Electronic Publication: 2019 May 10.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1038/s41436-019-0537-7