Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and...
Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Background
Inherited epimutations of Mismatch Repair (MMR) genes are responsible for Lynch Syndrome (LS) in a small, but well defined, subset of patients. Methylation of the MSH2 promoter consequent to the deletion of the upstream EPCAM gene is found in about 1%–3% of the LS patients and represents a classical secondary, constitutional and tissu...
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Full title
Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6503020
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6503020
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.587
