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Journal article

Novel MLH1 duplication identified in Colombian families with Lynch syndrome

Abstract:

Purpose: Lynch syndrome accounts for 2-4% of all colorectal cancer, and is mainly caused by germline mutations in the DNA mismatch repair genes. Our aim was to characterize the genetic mutation responsible for Lynch syndrome in an extensive Colombian family and to study its prevalence in Antioquia. Methods: A Lynch syndrome family fulfilling Amsterdam criteria II was studied by immunohistochemistry and by multiplex ligation-dependent probe amplification (MLPA). Results were confirmed by addit...

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Journal:
Genetics in Medicine
Volume:
13
Issue:
2
Pages:
155-160
Publication date:
2011-02-05
DOI:
ISSN:
1098-3600
URN:
uuid:c3e754e7-f0d0-4a99-90e1-c83894dd65da
Source identifiers:
120559
Local pid:
pubs:120559

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