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Article

[Nijmegen breakage syndrome in Slovakia].

Casopis lekaru ceskych - 1 Jan 2004

Seemanová E, Pohanka V, Seeman P, Misovicová N, Behunová J, Kvasnicová M, Dlholucký S, Valachová A, Cisarik F, Veghová E, Varon R, Sperling K

Abstract excerpt

BACKGROUND: The autosomal recessive Nijmegen breakage syndrome (NBS) is a DNA repair disorder due to a mutation in the NBS1 gene on 8q21. Hyperradiosensitivity and high risk for lymphoreticular malignancy are important reasons for early diagnosis and prevention by avoidance of ionisation. The frequency of NBS heterozygotes of the mutation 657de15, which is predominant in the Slavic population was estimated to be...

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PMID: 15446459

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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