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

Hum Biol. 2005 Jun;77(3):393-7. doi: 10.1353/hub.2005.0056.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Cycle Proteins / genetics*
  • Haplotypes
  • Humans
  • Nijmegen Breakage Syndrome / genetics*
  • Nuclear Proteins / genetics*
  • Polymorphism, Genetic*
  • Population Surveillance
  • Turkey / epidemiology

Substances

  • Cell Cycle Proteins
  • NBN protein, human
  • Nuclear Proteins

Associated data

  • OMIM/251260