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 journalArticle

3 Citations (Scopus)

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
Pages (from-to)393-397
Number of pages5
JournalHuman Biology
Volume77
Issue number3
StatePublished - Jun 1 2005
Externally publishedYes

Fingerprint

Nijmegen Breakage Syndrome
breakage
mutation
Mutation
gene
Population
Genes
allele
genes
Alleles
alleles
family

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

Cite this

Tekin, M., Akcayoz, D., Ucar, C., Gulen, H., & Akar, N. (2005). 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population. Human Biology, 77(3), 393-397.

657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population. / Tekin, Mustafa; Akcayoz, Duygu; Ucar, Canan; Gulen, Huseyin; Akar, Nejat.

In: Human Biology, Vol. 77, No. 3, 01.06.2005, p. 393-397.

Research output: Contribution to journalArticle

Tekin, M, Akcayoz, D, Ucar, C, Gulen, H & Akar, N 2005, '657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population', Human Biology, vol. 77, no. 3, pp. 393-397.
Tekin, Mustafa ; Akcayoz, Duygu ; Ucar, Canan ; Gulen, Huseyin ; Akar, Nejat. / 657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population. In: Human Biology. 2005 ; Vol. 77, No. 3. pp. 393-397.
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