Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F02%3A00000488" target="_blank" >RIV/61989592:15110/02:00000488 - isvavai.cz</a>

Alternative codes found

RIV/61989592:15110/02:00007277

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers

Original language description

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder that belongs to a group of chromosomal instability syndromes, typically represented by Bloom syndrome, Franconi anaemia, and ataxia telangiectasia.

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

FG - Paediatrics

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2002

Confidentiality

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

Name of the periodical

Cancer Genetics and Cytogenetics

ISSN

0165-4608

e-ISSN

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Volume of the periodical

138

Issue of the periodical within the volume

2

Country of publishing house

US - UNITED STATES

Number of pages

3

Pages from-to

157-159

UT code for WoS article

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EID of the result in the Scopus database

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