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Article

High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.

Journal of applied genetics - 1 Jan 2010

Maurer M H, Hoffmann K, Sperling K, Varon R

Abstract excerpt

Nijmegen breakage syndrome (NBS), a rare autosomal recessive chromosomal instability disorder, is caused by mutations in the NBN gene. Most patients known so far are of Slavic origin and carry the major founder mutation c.657-661del5. Due to an unexpectedly high incidence of NBS patients (homozygous for the c.657-661del5 mutation) in a Northeast Bavarian region in Southeast Germany, we estimated the prevalence of...

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PMID: 20453309
DOI: 10.1007/BF03195730

Genes

NBN

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

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High prevalence of the NBN gene mutation c.657-661del5 in Southeast Germany.PMID 20453309Read ↗

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