作者：
Warren,van Loggerenberg [1]
;
Shahin,Sowlati-Hashjin [2]
;
Jochen,Weile [1]
;
Rayna,Hamilton [3]
;
Aditya,Chawla [4]
;
Dayag,Sheykhkarimli [4]
;
Marinella,Gebbia [4]
;
Nishka,Kishore [4]
;
Laure,Frésard [5]
;
Sami,Mustajoki [6]
;
Elena,Pischik [6]
;
Elena,Di Pierro [7]
;
Michela,Barbaro [8]
;
Ylva,Floderus [8]
;
Caroline,Schmitt [9]
;
Laurent,Gouya [9]
;
Alexandre,Colavin [5]
;
Robert,Nussbaum [5]
;
Edith C H,Friesema [10]
;
Raili,Kauppinen [6]
;
Jordi,To-Figueras [11]
;
Aasne K,Aarsand [12]
;
Robert J,Desnick [13]
;
Michael,Garton [14]
;
Frederick P,Roth [15]
作者单位：
Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada.
[1]
Institute Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada.
[2]
Advanced Academic Programs, Johns Hopkins University, Washington, DC 20036, USA.
[3]
Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada.
[4]
Invitae Corp, San Francisco, CA 94103, USA.
[5]
Research Program in Molecular Medicine, Biomedicum-Helsinki, University of Helsinki, 00290 Helsinki, Finland.
[6]
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Unit of Medicine and Metabolic Diseases, 20122 Milano, Italy.
[7]
Porphyria Centre Sweden, Centre for Inherited Metabolic Diseases, Karolinska Institutet, Karolinska University Hospital, 17176 Stockholm, Sweden.
[8]
Centre français des porphyries, hôpital Louis-Mourier, Assistance Publique-Hopitaux de Paris, 92701 Colombes, France; Centre de recherche sur l'inflammation, Université Paris Cité, UMR1149 INSERM, 75018 Paris, France.
[9]
Porphyria Expertcenter Rotterdam, Center for Lysosomal and Metabolic Diseases, Department of Internal Medicine, Erasmus MC, 3015 Rotterdam, the Netherlands.
[10]
Biochemistry and Molecular Genetics Department, Hospital Clínic, IDIBAPS, University of Barcelona, 08036 Barcelona, Spain.
[11]
Norwegian Porphyria Centre, Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital, 5021 Bergen, Norway.
[12]
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[13]
Institute Biomedical Engineering, University of Toronto, Toronto, ON M5S 3G9, Canada. Electronic address: michael.garton@utoronto.ca.
[14]
Donnelly Centre, University of Toronto, Toronto, ON M5S 3E1, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON M5G 1X5, Canada; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada. Electronic address: fritz.roth@utoronto.ca.
[15]
DOI
10.1016/j.ajhg.2023.08.012
PMID
37729906
发布时间
2024-02-10
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