657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population
Yükleniyor...
Dosyalar
Tarih
2005
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
WAYNE STATE UNIV PRESS
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The 657de15 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 657de15 mutation. The 657de15 allele in the four Turkish families had a single origin.
Açıklama
Anahtar Kelimeler
founder effect, Nijmegen breakage syndrome, NBS1, Slavs, Turks
Kaynak
HUMAN BIOLOGY
WoS Q Değeri
Q3
Scopus Q Değeri
Cilt
77
Sayı
3