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Rare novel CYP2U1 and ZFYVE26 variants identified in two Pakistani families with spastic paraplegia.
Bibi, Farah; Efthymiou, Stephanie; Bourinaris, Thomas; Tariq, Ambreen; Zafar, Faisal; Rana, Nouzhat; Salpietro, Vincenzo; Houlden, Henry; Raja, Ghazala Kaukab; Saeed, Sadia; Minhas, Nasir Mahmood.
Afiliação
  • Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan.
  • Efthymiou S; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Bourinaris T; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Tariq A; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Zafar F; Department of Pediatrics, Multan Nishtar Hospital, Multan 60000, Pakistan.
  • Rana N; Department of Pediatrics, Multan Nishtar Hospital, Multan 60000, Pakistan.
  • Salpietro V; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.
  • Houlden H; Department of Neuromuscular disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK; University College, London. Electronic address: h.houlden@ucl.ac.uk.
  • Raja GK; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan. Electronic address: ghazala@uaar.edu.pk.
  • Saeed S; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan.
  • Minhas NM; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi 43600, Pakistan.
J Neurol Sci ; 411: 116669, 2020 Apr 15.
Article em En | MEDLINE | ID: mdl-32006740

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas de Transporte / Família 2 do Citocromo P450 Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: J Neurol Sci Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Proteínas de Transporte / Família 2 do Citocromo P450 Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: J Neurol Sci Ano de publicação: 2020 Tipo de documento: Article