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Neurological Research
A Journal of Progress in Neurosurgery, Neurology and Neurosciences
Volume 43, 2021 - Issue 2
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Original Research Paper

Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H

Safdar Abbasa Gomal Center of Biochemistry and Biotechnology, Gomal University, D.I.Khan, PakistanView further author information
,
Beatrice Bruggerb Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, AustriaView further author information
,
Muhammad Zubaira Gomal Center of Biochemistry and Biotechnology, Gomal University, D.I.Khan, Pakistan;c Department of Cell and Developmental Biology, School of Life Sciences, University of Science and Technology, Hefei, ChinaView further author information
,
Sana Gula Gomal Center of Biochemistry and Biotechnology, Gomal University, D.I.Khan, PakistanView further author information
,
Jasmin Blattererb Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, AustriaView further author information
,
Julian Wenningerb Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, AustriaView further author information
,
Khurram Rehmand Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Gomal University, D.I.Khan, PakistanView further author information
,
Benjamin Tatraib Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, AustriaView further author information
,
Muzammil Ahmad Khana Gomal Center of Biochemistry and Biotechnology, Gomal University, D.I.Khan, PakistanView further author information
&
Christian Windpassingerb Diagnostic and Research Institute of Human Genetics, Medical University of Graz, Graz, AustriaCorrespondence[email protected]
View further author information
 show all
Pages 133-140 | Received 06 Jun 2020, Accepted 24 Sep 2020, Published online: 27 Nov 2020

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