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Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
Khalaf-Nazzal, Reham; Fasham, James; Ubeyratna, Nishanka; Evans, David J; Leslie, Joseph S; Warner, Thomas T; Al-Hijawi, Fida'; Alshaer, Shurouq; Baker, Wisam; Turnpenny, Peter D; Baple, Emma L; Crosby, Andrew H.
Affiliation
  • Khalaf-Nazzal R; Biomedical Sciences Department, Faculty of Medicine, Arab American University of Palestine, Jenin P227, Palestine.
  • Fasham J; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
  • Ubeyratna N; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter EX1 2ED, UK.
  • Evans DJ; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
  • Leslie JS; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
  • Warner TT; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
  • Al-Hijawi F; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, 1 Wakefield Street, London WC1N 1PJ, UK.
  • Alshaer S; Paediatrics' Community Outpatient Clinics, Palestinian Ministry of Health, Jenin P200, Palestine.
  • Baker W; Faculty of Graduate Studies, Arab American University, Ramallah P622, Palestine.
  • Turnpenny PD; Paediatrics Department, Dr. Khalil Suleiman Government Hospital, Jenin P200, Palestine.
  • Baple EL; College of Medicine and Health, RILD Wellcome Wolfson Centre, University of Exeter, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter EX2 5DW, UK.
  • Crosby AH; Peninsula Clinical Genetics Service, Royal Devon & Exeter Hospital (Heavitree), Gladstone Road, Exeter EX1 2ED, UK.
Brain Sci ; 11(5)2021 May 11.
Article in En | MEDLINE | ID: mdl-34064836
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Brain Sci Year: 2021 Document type: Article Country of publication: Switzerland
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Brain Sci Year: 2021 Document type: Article Country of publication: Switzerland