A Complex Rearrangement in the APC Gene Uncovered by Multiplex Ligation-Dependent Probe Amplification

Germline mutations in the tumor suppressor gene APC are the underlying cause of familial adenomatous polyposis, an autosomal-dominant cancer predisposition syndrome of the colorectum. Here, we describe a complex pathogenic rearrangement in the APC gene that was detected during deletion screening and...

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Bibliografiska uppgifter
Huvudupphovsmän: Pagenstecher, Constanze, Gadzicki, Dorothea, Stienen, Dietlinde, Uhlhaas, Siegfried, Mangold, Elisabeth, Rahner, Nils, Arslan-Kirchner, Mine, Propping, Peter, Friedl, Waltraut, Aretz, Stefan
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Investigative Pathology 2007
Ämnen:
Consultations in Molecular Diagnostics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867434/
https://ncbi.nlm.nih.gov/pubmed/17251345
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2007.060096
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