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Article

Mild Nijmegen breakage syndrome phenotype due to alternative splicing.

Human molecular genetics - 1 Mar 2006

Varon Raymonda, Dutrannoy Véronique, Weikert Georg, Tanzarella Caterina, Antoccia Antonio, Stöckl Lars, Spadoni Emanuela, Krüger Lars-Arne, di Masi Alessandra, Sperling Karl, Digweed Martin, Maraschio Paola

Abstract excerpt

Hypomorphic mutations of the NBS1 gene are responsible for Nijmegen breakage syndrome (NBS), characterized by microcephaly, chromosomal instability, radiosensitivity, immunodeficiency and high cancer predisposition. Over 90% of NBS patients are homozygous for the 657Delta5 mutation and are of Sla...

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Source

Identifiers

PMID: 16415040
DOI: 10.1093/hmg/ddi482

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16415040-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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