657del5 Mutation of the Nijmegen Breakage Syndrome Gene (NBS1) in the Turkish Population

Document Type

Article

Authors

Mustafa Tekin, Ankara University School of MedicineFollow
Duygu Akcayoz, Ankara University School of Medicine
Canan Ucar, Selcuk University School of Medicine
Huseyin Gulen, Dr. Behcet Uz Children’s Hospital

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.

Recommended Citation

Tekin, Mustafa; Akcayoz, Duygu; Ucar, Canan; and Gulen, Huseyin (2005) "657del5 Mutation of the Nijmegen Breakage Syndrome Gene (NBS1) in the Turkish Population," Human Biology: Vol. 77: Iss. 3, Article 8.
Available at: https://digitalcommons.wayne.edu/humbiol/vol77/iss3/8