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Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.
Abbas, Safdar; Brugger, Beatrice; Zubair, Muhammad; Gul, Sana; Blatterer, Jasmin; Wenninger, Julian; Rehman, Khurram; Tatrai, Benjamin; Khan, Muzammil Ahmad; Windpassinger, Christian.
Affiliation
  • Abbas S; Gomal Center of Biochemistry and Biotechnology, Gomal University , D.I.Khan, Pakistan.
  • Brugger B; Diagnostic and Research Institute of Human Genetics, Medical University of Graz , Graz, Austria.
  • Zubair M; Gomal Center of Biochemistry and Biotechnology, Gomal University , D.I.Khan, Pakistan.
  • Gul S; Department of Cell and Developmental Biology, School of Life Sciences, University of Science and Technology , Hefei, China.
  • Blatterer J; Gomal Center of Biochemistry and Biotechnology, Gomal University , D.I.Khan, Pakistan.
  • Wenninger J; Diagnostic and Research Institute of Human Genetics, Medical University of Graz , Graz, Austria.
  • Rehman K; Diagnostic and Research Institute of Human Genetics, Medical University of Graz , Graz, Austria.
  • Tatrai B; Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Gomal University , D.I.Khan, Pakistan.
  • Khan MA; Diagnostic and Research Institute of Human Genetics, Medical University of Graz , Graz, Austria.
  • Windpassinger C; Gomal Center of Biochemistry and Biotechnology, Gomal University , D.I.Khan, Pakistan.
Neurol Res ; 43(2): 133-140, 2021 Feb.
Article in En | MEDLINE | ID: mdl-33246395
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Cytochromes b5 / Mixed Function Oxygenases Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Neurol Res Year: 2021 Document type: Article Affiliation country: Pakistan Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Cytochromes b5 / Mixed Function Oxygenases Type of study: Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Neurol Res Year: 2021 Document type: Article Affiliation country: Pakistan Country of publication: United kingdom