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Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
Heinz, Lisa; Kim, Gwang-Jin; Marrakchi, Slaheddine; Christiansen, Julie; Turki, Hamida; Rauschendorf, Marc-Alexander; Lathrop, Mark; Hausser, Ingrid; Zimmer, Andreas D; Fischer, Judith.
  • Heinz L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Faculty of Biology, University of Freiburg, 79104 Freiburg, Germany.
  • Kim GJ; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany; Pharmaceutical Bioinformatics, Institute of Pharmaceutical Sciences, Albert-Ludwigs University, 79104 Freiburg, Germany.
  • Marrakchi S; Department of Dermatology, Hédi Chaker University Hospital, 3029 Sfax, Tunisia.
  • Christiansen J; Department of Dermatology and Venereology, Skanes University Hospital, 22185 Lund, Sweden.
  • Turki H; Department of Dermatology, Hédi Chaker University Hospital, 3029 Sfax, Tunisia.
  • Rauschendorf MA; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Lathrop M; McGill University and Genome Quebec Innovation Centre, Montréal, QC H3A 0G1, Canada.
  • Hausser I; Institute of Pathology, University Hospital Heidelberg, 69120 Heidelberg, Germany.
  • Zimmer AD; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
  • Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany. Electronic address: judith.fischer@uniklinik-freiburg.de.
Am J Hum Genet ; 100(6): 926-939, 2017 Jun 01.
Article en En | MEDLINE | ID: mdl-28575648
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sulfotransferasas / Ictiosis Lamelar / Predisposición Genética a la Enfermedad / Genes Recesivos / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sulfotransferasas / Ictiosis Lamelar / Predisposición Genética a la Enfermedad / Genes Recesivos / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Año: 2017 Tipo del documento: Article