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Effect of different mutations in the ATM gene on the cellular response to ionizing radiation

Hinreiner, Sophie (2019) Effect of different mutations in the ATM gene on the cellular response to ionizing radiation. PhD, Universität Regensburg.

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Date of publication of this fulltext: 22 Jan 2019 11:40

Abstract (English)

Ataxia Telangiectasia - an autosomal recessive, multisystem disorder - is characterized by progressive cerebellar ataxia, telangiectasia, immune defects and a predisposition to malignancy and was first described in 1926 by Syllaba and Henner (Syllaba, L., Henner, K. 1926). The gene – Ataxia Telangiectasia Mutated (ATM) - was identified on chromosome 11q22-23 and up to now more than 350 different ...

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Translation of the abstract (German)

Ataxia telangiectasia ist eine autosomal-rezessive vererbte Multisystemerkrankung, welche durch eine fortschreitende zerebelläre Ataxie, Teleangiektasien, Immundefekte und eine Prädisposition für Tumore gekennzeichnet ist. Sie wurde erstmals 1926 von Syllaba und Henner (Syllaba, L., Henner, K. 1926) beschrieben. Das Gen - Ataxia Telangiectasia Mutated (ATM) - liegt auf Chromosom 11q22-23 und ...

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Item type:Thesis of the University of Regensburg (PhD)
Date:22 January 2019
Referee:Prof. Dr. Wolfram Gronwald
Date of exam:12 December 2018
Institutions:Medicine > Institut für Funktionelle Genomik > Lehrstuhl für Funktionelle Genomik (Prof. Oefner)
Keywords:Ataxia-Telangiectasia, Breast Cancer; c.7271T>G, Ionizing Radiation
Dewey Decimal Classification:500 Science > 500 Natural sciences & mathematics
600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Yes
Item ID:38205
Owner only: item control page

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