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

Human Biology

Volumn 77, Issue 3, 2005, Pages 393-397

  Tekin, Mustafa ^a   Akcayoz, Duygu ^a   Ucar, Canan ^b   Gulen, Huseyin ^c   Akar, Nejat ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b SELCUK UNIVERSITY   (Turkey)

^c DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

Author keywords

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

Indexed keywords

DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONTROLLED STUDY; DNA SEQUENCE; FAMILY STUDY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NIJMEGEN BREAKAGE SYNDROME; POLYMERASE CHAIN REACTION; POPULATION GENETICS; TURKEY (REPUBLIC);

EID: 27244449300     PISSN: 00187143     EISSN: None     Source Type: Journal    
DOI: 10.1353/hub.2005.0056     Document Type: Article

References (7)

1. Chrzanowska, K. H., and C. K. Janniger. 2001. Nijmegen breakage syndrome. E-Medicine Dermatol. 2:10. Available at http://www.emedicine.com
2. International Nijmegen Breakage Syndrome Study Group. 2000. Nijmegen breakage syndrome. Arch. Dis. Child. 82:400-406.
3. Matsuura, S., H. Tauchi, A. Nakamura et al. 1998. Positional cloning of the gene for Nijmegen breakage syndrome. Nat. Genet. 19:179-181.
4. Tekin, M., F. Dogu, N. Tacyildiz et al. 2002. 657del5 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family. Clin. Genet. 62:84-88.
5. Varon, R., E. Seemanova, K. Chrzanowska et al. 2000. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur. J. Hum. Genet. 8:900-902.
6. Varon, R., C. Vissinga, M. Platzer et al. 1998. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93:467-476.
7. Weemaes, C. M., T. W. Hustinx, J. M. Scheres et al. 1981. A new chromosomal instability disorder: The Nijmegen breakage syndrome. Acta Paediatr. Scand. 70:557-564.