Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC...
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
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Author / Creator
Kim, Borahm , Won, Dongju , Jang, Mi , Kim, Hoguen , Choi, Jong Rak , Kim, Tae Il and Lee, Seung-Tae
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
Familial adenomatous polyposis (FAP) is an autosomal dominant colorectal tumor characterized by numerous adenomatous colonic polyps that often lead to colon cancer. Although most patients with FAP harbored germline mutations in APC gene, it was recently recognized that patients with clinical FAP, but without detectable pathogenic mutations, could b...
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Full title
Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis
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Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_34519f0ffb9d45268e6cc8f33e13e551
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_34519f0ffb9d45268e6cc8f33e13e551
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-019-0553-0
