657del5 mutation of the Nijmegen breakage syndrome gene (NBS1) in the Turkish population.
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.
Tekin
Mustafa
M
Division of Pediatric Molecular Genetics, Ankara University School of Medicine, Ankara, Turkey.
Akcayoz
Duygu
D
Ucar
Canan
C
Gulen
Huseyin
H
Akar
Nejat
N
D018797:Cell Cycle Proteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D049932:Nijmegen Breakage Syndrome / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D011159:Population Surveillance; D014421:Turkey / Q000453:epidemiology
D018797:Cell Cycle Proteins; C112156:NBN protein, human; D009687:Nuclear Proteins