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A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Khateb, Samer; Kowalewski, Björn; Bedoni, Nicola; Damme, Markus; Pollack, Netta; Saada, Ann; Obolensky, Alexey; Ben-Yosef, Tamar; Gross, Menachem; Dierks, Thomas; Banin, Eyal; Rivolta, Carlo; Sharon, Dror.
Afiliación
  • Khateb S; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Kowalewski B; Department of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany.
  • Bedoni N; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
  • Damme M; Department of Biochemistry, University of Kiel, Kiel, Germany.
  • Pollack N; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Saada A; Monique and Jacques Roboh Department of Genetic Research and the Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Obolensky A; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
  • Gross M; Department of Otolaryngology-Head and Neck Surgery, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Dierks T; Department of Chemistry, Biochemistry I, Bielefeld University, Bielefeld, Germany. thomas.dierks@uni-bielefeld.de.
  • Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. banine@cc.huji.ac.il.
  • Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland. carlo.rivolta@unil.ch.
  • Sharon D; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK. carlo.rivolta@unil.ch.
Genet Med ; 20(9): 1004-1012, 2018 09.
Article en En | MEDLINE | ID: mdl-29300381
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arilsulfatasas / Síndromes de Usher Límite: Adult / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Arilsulfatasas / Síndromes de Usher Límite: Adult / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Israel Pais de publicación: Estados Unidos