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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 addi...

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Publication status:
Published

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Journal:
Genetics in medicine : official journal of the American College of Medical Genetics
Volume:
13
Issue:
2
Pages:
155-160
Publication date:
2011-02-05
DOI:
EISSN:
1530-0366
ISSN:
1098-3600
URN:
uuid:55dbb892-11fd-4e24-818b-ba26ae87d23d
Source identifiers:
112525
Local pid:
pubs:112525

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