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

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Küçük Resim

Tarih

2005

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

Künye