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

Abbas, Safdar; Brugger, Beatrice; Zubair, Muhammad; Gul, Sana; Blatterer, Jasmin; Wenninger, Julian; Rehman, Khurram; Tatrai, Benjamin; Khan, Muzammil Ahmad; Windpassinger, Christian.

Afiliação

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 em En | MEDLINE | ID: mdl-33246395

Assuntos

Citocromos b5/genética; Oxigenases de Função Mista/genética; Paraplegia Espástica Hereditária/genética; Adolescente; Adulto; Consanguinidade; Família; Feminino; Humanos; Masculino; Simulação de Acoplamento Molecular; Mutação; Paquistão; Linhagem; Polimorfismo de Nucleotídeo Único; Sequenciamento do Exoma

Palavras-chave

FA2H; Hereditary Spastic Paraplegia; Pakistani family; cytochrome B5 domain; deletion mutation

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária / Citocromos b5 / Oxigenases de Função Mista Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Neurol Res Ano de publicação: 2021 Tipo de documento: Article

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