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A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.
Rafiullah, Rafiullah; Long, Alyssa B; Ivanova, Anna A; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca C; Bolthauser, Eugen; Blum, Martin; Kahn, Richard A; Caspary, Tamara; Rappold, Gudrun A.
Afiliación
  • Rafiullah R; Department of Human Molecular Genetics, Heidelberg University, 69120, Heidelberg, Germany.
  • Long AB; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
  • Ivanova AA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA, 30322, USA.
  • Ali H; Department of Psychiatry, Bolan Medical College, 87600, Quetta, Pakistan.
  • Berkel S; Department of Human Molecular Genetics, Heidelberg University, 69120, Heidelberg, Germany.
  • Mustafa G; Molecular and Cellular Modeling (MCM) Group, Heidelberg Institute for Theoretical Studies (HITS), 69118, Heidelberg, Germany.
  • Paramasivam N; Center for Molecular Biology, DKFZ-ZMBH Alliance, Heidelberg University, 69120, Heidelberg, Germany.
  • Schlesner M; Computational Oncology Group, Theoretical Bioinformatics Division (B080), German Cancer Research Centre (DKFZ), 69120, Heidelberg, Germany.
  • Wiemann S; Medical Faculty Heidelberg, Heidelberg University, 69120, Heidelberg, Germany.
  • Wade RC; Computational Oncology Group, Theoretical Bioinformatics Division (B080), German Cancer Research Centre (DKFZ), 69120, Heidelberg, Germany.
  • Bolthauser E; Genomic and Proteomics Core Facility, German Cancer Research Center (DKFZ), 69120, Heidelberg, Germany.
  • Blum M; Molecular and Cellular Modeling (MCM) Group, Heidelberg Institute for Theoretical Studies (HITS), 69118, Heidelberg, Germany.
  • Kahn RA; Center for Molecular Biology, DKFZ-ZMBH Alliance, Heidelberg University, 69120, Heidelberg, Germany.
  • Caspary T; Division of Pediatric Neurology, University Children's Hospital, 8032, Zurich, Switzerland.
  • Rappold GA; Institute of Zoology, University of Hohenheim, 70593, Stuttgart, Germany.
Eur J Hum Genet ; 25(12): 1324-1334, 2017 12.
Article en En | MEDLINE | ID: mdl-29255182
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / Anomalías Múltiples / Cerebelo / Anomalías del Ojo / Factores de Ribosilacion-ADP / Enfermedades Renales Quísticas / Mutación con Pérdida de Función Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Alemania
Texto completo
Imprimir
XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Retina / Anomalías Múltiples / Cerebelo / Anomalías del Ojo / Factores de Ribosilacion-ADP / Enfermedades Renales Quísticas / Mutación con Pérdida de Función Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Animals / Child / Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Alemania