Functional analysis of MMR gene VUS from potential Lynch syndrome patients
Functional analysis of MMR gene VUS from potential Lynch syndrome patients
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Author / Creator
Mahdouani, Marwa , Zhuri, Drenushe , Sezginer Guler, Hazal , Hmida, Dorra , Sana, Mokni , Azaza, Mohamed , Ben Said, Mariem , Masmoudi, Saber , Hmila, Fahmi , Youssef, Sabri , Ben Sghaier, Rihab , Brieger, Angela , Zeuzem, Stefan , Saad, Ali , Gurkan, Hakan , Yalcintepe, Sinem , Gribaa, Moez and Plotz, Guido
Publisher
United States: Public Library of Science
Journal title
Language
English
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Publisher
United States: Public Library of Science
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Scope and Contents
Contents
Lynch syndrome is caused by inactivating variants in DNA mismatch repair genes, namely MLH1, MSH2, MSH6 and PMS2. We have investigated five MLH1 and one MSH2 variants that we have identified in Turkish and Tunisian colorectal cancer patients. These variants comprised two small deletions causing frameshifts resulting in premature stops which could b...
Alternative Titles
Full title
Functional analysis of MMR gene VUS from potential Lynch syndrome patients
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Record Identifier
TN_cdi_plos_journals_3069270363
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_3069270363
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0304141
