A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
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Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Lynch syndrome, an autosomal dominantly inherited disease, is characterized by an increased risk of developing colorectal cancer. We found a novel germline variant of
MLH1
(IVS6+2T>C) that caused Lynch syndrome in a young Japanese patient who had multiple colorectal cancers. Accurate diagnosis will be highly beneficial in clinical practice fo...
Alternative Titles
Full title
A novel MLH1 intronic variant in a young Japanese patient with Lynch syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5938003
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5938003
Other Identifiers
ISSN
2054-345X
E-ISSN
2054-345X
DOI
10.1038/s41439-018-0002-1
