Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.

Shalash, Ali S; Rösler, Thomas W; Salama, Mohamed; Pendziwiat, Manuela; Müller, Stefanie H; Hopfner, Franziska; Höglinger, Günter U; Kuhlenbäumer, Gregor

Shalash, Ali S; Rösler, Thomas W; Salama, Mohamed; Pendziwiat, Manuela; Müller, Stefanie H; Hopfner, Franziska; Höglinger, Günter U; Kuhlenbäumer, Gregor.

Afiliação

Shalash AS; Department of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Rösler TW; Department of Neurology, School of Medicine, Technical University of Munich, Munich, Germany.
Salama M; Department of Translational Neurodegeneration, German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
Pendziwiat M; Institute of Global Health and Human Ecology, American University in Cairo (AUC), Cairo, Egypt.
Müller SH; Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Hopfner F; Institute of Clinical Molecular Biology, University of Kiel, Kiel, Germany.
Höglinger GU; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, University of Kiel, Kiel, Germany.
Kuhlenbäumer G; Institute of Health Informatics, UCL, London, UK.

Neurogenetics ; 22(2): 143-147, 2021 05.

Article em En | MEDLINE | ID: mdl-33779842

Assuntos

Ataxia Telangiectasia/genética; Mutação de Sentido Incorreto; Mutação Puntual; Causalidade; Egito; Feminino; Genótipo; Humanos; Masculino; Linhagem; Fenótipo; Sequenciamento do Exoma; alfa-Fetoproteínas/genética

Palavras-chave

ATM serine/threonine kinase; Ataxia telangiectasia; Egypt; Mutation; Pathogenicity

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Telangiectasia / Mutação Puntual / Mutação de Sentido Incorreto Limite: Female / Humans / Male País/Região como assunto: Africa Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Egito

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