Article

Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing

2015-06-26

Abstract excerpt

Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene. Those deletions were measured using multiplex ligation-dependent probe amplification. Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing. The deletion occurred in a patient diagnosed with Familial Adenomatous Polyposis, and...

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Literature Corpus work: f623d4c1-c1ab-52fb-b053-3c6ccd16f0ed
DOI: 10.12688/f1000research.6636.1

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