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 Bioljournal_title
Human biologyauthors
Tekin M,Akcayoz D,Ucar C,Gulen H,Akar Ndoi
10.1353/hub.2005.0056keywords:
subject
Has Abstractpub_date
2005-06-01 00:00:00pages
393-7issue
3eissn
0018-7143issn
1534-6617journal_volume
77pub_type
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