Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F11%3A10538" target="_blank" >RIV/00216208:11110/11:10538 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/11:7105 RIV/00064203:_____/11:7105 RIV/00064165:_____/11:10538

Result on the web

<a href="http://dx.doi.org/10.1007/s12017-011-8152-z" target="_blank" >http://dx.doi.org/10.1007/s12017-011-8152-z</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients

Original language description

Ataxia telangiectasia (AT) is a genomic instability syndrome characterised, among others, by progressive cerebellar degeneration, oculocutaneous telangiectases, immunodeficiency, elevated serum alpha-phetoprotein level, chromosomal breakage, hypersensitivity to ionising radiation and increased cancer risk. This autosomal recessive disorder is caused by mutations in the ataxia telangiectasia mutated (ATM) gene coding for serine/threonine protein kinase with a crucial role in response to DNA double-strandbreaks. We characterised genotype and phenotype of 12 Slavic AT patients from 11 families. Mutation analysis included sequencing of the entire coding sequence, adjacent intron regions, 3'UTR and 5'UTR of the ATM gene and multiplex ligation-dependent probe amplification (MLPA) for the detection of large deletions/duplications at the ATM locus. The high incidence of new and individual mutations demonstrates a marked mutational heterogeneity of AT in the Czech Republic. Our data indicate t

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NS10304" target="_blank" >NS10304: HEREDITARY BREAST AND OVARIAN CANCER: THE ROLE OF LOW PENETRANCE GENES IN TUMORIGENESIS</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2011

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

NeuroMolecular Medicine

ISSN

1535-1084

e-ISSN

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Volume of the periodical

13

Issue of the periodical within the volume

3

Country of publishing house

US - UNITED STATES

Number of pages

8

Pages from-to

204-211

UT code for WoS article

000294068700006

EID of the result in the Scopus database

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