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Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
Ullah, Muhammad Ikram; Nasir, Abdul; Ahmad, Arsalan; Harlalka, Gaurav Vijay; Ahmad, Wasim; Hassan, Muhammad Jawad; Baple, Emma L; Crosby, Andrew H; Chioza, Barry A.
Afiliação
  • Ullah MI; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Nasir A; RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK.
  • Ahmad A; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Harlalka GV; Computational Medicinal Chemistry Laboratory, Department of Biochemistry, Abdul Wali Khan University Mardan, Mardan, Pakistan.
  • Ahmad W; Division of Neurology, Shifa International Hospital, Shifa Tameer e Millat University, Islamabad, Pakistan.
  • Hassan MJ; RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK.
  • Baple EL; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Crosby AH; Department of Healthcare Biotechnology, Atta-ur-Rahman School of Applied Biosciences (ASAB), National University of Sciences & Technology (NUST), Islamabad, Pakistan.
  • Chioza BA; RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK.
BMC Med Genet ; 19(1): 25, 2018 02 20.
Article em En | MEDLINE | ID: mdl-29458334
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Ataxia / Convulsões / Consanguinidade / Oxirredutases do Álcool / Epilepsia / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Female / Humans País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Paquistão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Ataxia / Convulsões / Consanguinidade / Oxirredutases do Álcool / Epilepsia / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Female / Humans País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Paquistão