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Article

657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls.

American journal of medical genetics. Part A - 15 Jul 2003

Resnick Igor B, Kondratenko Irina, Pashanov Eugeni, Maschan Alexey A, Karachunsky Alexander, Togoev Oleg, Timakov Andrey, Polyakov Alexander, Tverskaya Svetlana, Evgrafov Oleg, Roumiantsev Alexander G

Abstract excerpt

Nijmegen breakage syndrome (NBS, OMIM 251260) is a rare hereditary disease, characterized by immune deficiency, microcephaly, and an extremely high incidence of lymphoid tissue malignancies. The gene mutated in NBS, NBS1, was recently cloned from its location on chromosome 8q21. The encoded prote...

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Identifiers

PMID: 12833396
DOI: 10.1002/ajmg.a.20188

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12833396-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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