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Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Komlosi, Katalin; Giehl, Kathrin; Bouadjar, Bakar; Bygum, Anette; Tantcheva-Poor, Iliana; Hellström Pigg, Maritta; Has, Cristina; Yang, Zhou; Irvine, Alan D; Betz, Regina C; Zambruno, Giovanna; Tadini, Gianluca; Süßmuth, Kira; Gruber, Robert; Schmuth, Matthias; Mazereeuw-Hautier, Juliette; Jonca, Natalie; Guez, Sophie; Brena, Michela; Hernandez-Martin, Angela; van den Akker, Peter; Bolling, Maria C; Hannula-Jouppi, Katariina; Zimmer, Andreas D; Alter, Svenja; Vahlquist, Anders; Fischer, Judith.
Afiliación
  • Hotz A; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Kopp J; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Bourrat E; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, 75010 Paris, France.
  • Oji V; Department of Dermatology and Venereology, Münster University Medical Center, 48149 Münster, Germany.
  • Komlosi K; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Giehl K; Department of Dermatology and Allergy, University of Munich LMU, 80337 Munich, Germany.
  • Bouadjar B; Department of Dermatology, CHU of Bab-El-Oued Algiers, Algiers 16008, Algeria.
  • Bygum A; Department of Dermatology, Odense University Hospital, 5000 Odense, Denmark.
  • Tantcheva-Poor I; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.
  • Hellström Pigg M; Clinical Institute, University of Southern Denmark, 5000 Odense, Denmark.
  • Has C; Department of Dermatology, University of Cologne, 50937 Cologne, Germany.
  • Yang Z; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
  • Irvine AD; Department of Dermatology, Medical Center-University of Freiburg, University of Freiburg, 79104 Freiburg, Germany.
  • Betz RC; Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Zambruno G; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100069, China.
  • Tadini G; Dermatology, Children's Health Ireland and Clinical Medicine, Trinity College Dublin, D12 N512 Dublin, Ireland.
  • Süßmuth K; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, 53127 Bonn, Germany.
  • Gruber R; Genodermatosis Unit, Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Schmuth M; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOSD Pediatria ad Alta Intensità di Cura, 20122 Milan, Italy.
  • Mazereeuw-Hautier J; Department of Dermatology and Venereology, Münster University Medical Center, 48149 Münster, Germany.
  • Jonca N; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Guez S; Department of Dermatology, Venereology and Allergy, Medical University of Innsbruck, 6020 Innsbruck, Austria.
  • Brena M; Reference Center for Rare Skin Diseases, Dermatology Department, CHU Larrey, Université Paul Sabatier, 31000 Toulouse, France.
  • Hernandez-Martin A; Department of Epidermis Differentiation and Rheumatoid Autoimmunity, UMR 1056 Inserm University Toulouse, Place du Dr Baylac, Hôpital Purpan, 31059 Toulouse, France.
  • van den Akker P; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOSD Pediatria ad Alta Intensità di Cura, 20122 Milan, Italy.
  • Bolling MC; Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, UOSD Pediatria ad Alta Intensità di Cura, 20122 Milan, Italy.
  • Hannula-Jouppi K; Department of Dermatology, Hospital Infantil Niño Jesús, 28009 Madrid, Spain.
  • Zimmer AD; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700RB Groningen, The Netherlands.
  • Alter S; Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, University of Groningen, 9700RB Groningen, The Netherlands.
  • Vahlquist A; ERN-Skin Center, Department of Dermatology and Allergology, University of Helsinki and Helsinki University Central Hospital, HUS, 00029 Helsinki, Finland.
  • Fischer J; Folkhälsan Research Center, Helsinki, Finland and Research Programs Unit, Stem Cells and Metabolism Research Program, University of Helsinki, 00290 Helsinki, Finland.
Genes (Basel) ; 12(1)2021 01 09.
Article en En | MEDLINE | ID: mdl-33435499
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Araquidonato 12-Lipooxigenasa / Eritrodermia Ictiosiforme Congénita / Lipooxigenasa / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Adult / Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Araquidonato 12-Lipooxigenasa / Eritrodermia Ictiosiforme Congénita / Lipooxigenasa / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Límite: Adult / Female / Humans / Male Idioma: En Revista: Genes (Basel) Año: 2021 Tipo del documento: Article País de afiliación: Alemania