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Published in 2019 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2019.1646992
Abstract: Background: In 90% of Amyotrophic Lateral Sclerosis (ALS) cases, the disease is sporadic, the remaining 10% being familial. Many genes have been associated with the disease. The use of next generation sequencing has allowed increasing…
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Keywords:
overexpression;
analysis;
model;
pathogenicity ... See more keywords
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Published in 2018 at "Journal of Cellular and Molecular Medicine"
DOI: 10.1111/jcmm.13881
Abstract: Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH,…
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Keywords:
pms2;
risk;
romanian population;
lynch syndrome ... See more keywords