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

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.

journal_name

Hum Biol

journal_title

Human biology

authors

Tekin M,Akcayoz D,Ucar C,Gulen H,Akar N

doi

10.1353/hub.2005.0056

keywords:

subject

Has Abstract

pub_date

2005-06-01 00:00:00

pages

393-7

issue

3

eissn

0018-7143

issn

1534-6617

journal_volume

77

pub_type

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