P. Ala278Val mutation might cause a pathogenic defect in HEXB folding leading to the Sandhoff disease.

Rahmani, Zahra; Banisadr, Arsham; Ghodsinezhad, Vadieh; Dibaj, Mohsen; Aryani, Omid

Rahmani, Zahra; Banisadr, Arsham; Ghodsinezhad, Vadieh; Dibaj, Mohsen; Aryani, Omid.

Afiliação

Rahmani Z; Department of Medical Genetics, Golestan University of Medical Sciences, Gorgan, Iran.
Banisadr A; Department of Medical Biotechnology and Nanotechnology, Mashhad University of Medical Sciences, Mashhad, Iran.
Ghodsinezhad V; Molecular Medicine Department, Faculty of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran. vadieh95@gmail.com.
Dibaj M; Department of Biological Sciences, School of Natural Sciences, University of Tabriz, Tabriz, Iran.
Aryani O; Neuroscience Department, Iran University of Medical sciences, Tehran, Iran.

Metab Brain Dis ; 37(8): 2669-2675, 2022 12.

Article em En | MEDLINE | ID: mdl-36190588

Assuntos

Doença de Sandhoff; Feminino; Humanos; Doença de Sandhoff/genética; Doença de Sandhoff/metabolismo; Irã (Geográfico); Mutação; Homozigoto; Cadeia beta da beta-Hexosaminidase/genética

Palavras-chave

HEXB; In Silico analysis; Mutation; Sandhoff disease

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Sandhoff Tipo de estudo: Prognostic_studies Limite: Female / Humans País/Região como assunto: Asia Idioma: En Revista: Metab Brain Dis Assunto da revista: CEREBRO / METABOLISMO Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Irã

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