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A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis.
Akçakaya, Nihan Hande; Salman, Baris; Görmez, Zeliha; Tarkan Argüden, Yelda; Çirakoglu, Ayse; Çakmur, Raif; Dönmez Çolakoglu, Berril; Hacihanefioglu, Seniha; Özbek, Ugur; Yapici, Zuhal; Ugur Iseri, Sibel Aylin.
Affiliation
  • Akçakaya NH; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Çapa/istanbul, 34093, Turkey. nhakcakaya@gmail.com.
  • Salman B; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Çapa/istanbul, 34093, Turkey.
  • Görmez Z; Department of Software Engineering, Faculty of Engineering, Istinye University, Istanbul, Turkey.
  • Tarkan Argüden Y; Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Çirakoglu A; Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Çakmur R; Department of Neurology, Dokuz Eylul Faculty of Medicine, Izmir, Turkey.
  • Dönmez Çolakoglu B; Department of Neurology, Dokuz Eylul Faculty of Medicine, Izmir, Turkey.
  • Hacihanefioglu S; Department of Medical Biology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Özbek U; Department of Medical Genetics, Acibadem Faculty of Medicine, Acibadem University, Istanbul, Turkey.
  • Yapici Z; Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Ugur Iseri SA; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Çapa/istanbul, 34093, Turkey.
Neuromolecular Med ; 21(1): 54-59, 2019 03.
Article in En | MEDLINE | ID: mdl-30612247
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Codon, Nonsense / Neurodegenerative Diseases / Chromosomes, Human, X / Mental Retardation, X-Linked / Genes, X-Linked / Mosaicism Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Humans / Male Language: En Journal: Neuromolecular Med Journal subject: BIOLOGIA MOLECULAR / NEUROLOGIA Year: 2019 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Carrier Proteins / Codon, Nonsense / Neurodegenerative Diseases / Chromosomes, Human, X / Mental Retardation, X-Linked / Genes, X-Linked / Mosaicism Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Humans / Male Language: En Journal: Neuromolecular Med Journal subject: BIOLOGIA MOLECULAR / NEUROLOGIA Year: 2019 Document type: Article Affiliation country: