657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population

Mustafa Tekin, Duygu Akcayoz, Canan Ucar, Huseyin Gulen, Nejat Akar

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

The 657del5 mutation of the NBS1 gene has been demonstrated in most patients with Nijmegen breakage syndrome (NBS). We identified four Turkish families in which probands were diagnosed as having NBS and found to be homozygous for the 657del5 mutation. The 657del5 allele in the four Turkish families had a single origin.

Original languageEnglish (US)
Pages (from-to)393-397
Number of pages5
JournalHuman Biology
Volume77
Issue number3
DOIs
StatePublished - Jun 2005
Externally publishedYes

Keywords

  • Founder effect
  • NBS1
  • Nijmegen breakage syndrome
  • Slavs
  • Turks

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Genetics
  • Genetics(clinical)
  • Ecology, Evolution, Behavior and Systematics

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