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Article

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

The Journal of molecular diagnostics : JMD - 1 Mar 2009

Kaufmann Astrid, Vogt Stefanie, Uhlhaas Siegfried, Stienen Dietlinde, Kurth Ingo, Hameister Horst, Mangold Elisabeth, Kötting Judith, Kaminsky Elke, Propping Peter, Friedl Waltraut, Aretz Stefan

Abstract excerpt

In monogenic disorders, the functional evaluation of rare, unclassified variants helps to assess their pathogenic relevance and can improve differential diagnosis and predictive testing. We characterized six rare APC variants in patients with familial adenomatous polyposis at the mRNA level. APC variants c.531 + 5G>C and c.532-8G>A in intron 4, c.1409-2_1409delAGG in intron 10, c.1548G>A in exon 11, and a large...

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Identifiers

PMID: 19196998
DOI: 10.2353/jmoldx.2009.080129
PMCID: PMC2665862

Genes

APC

Variants

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