Article
Novel mechanism of a CDH1 splicing mutation in a Korean patient with signet ring cell carcinoma.
BMB reports - 1 Nov 2011
Kim Sollip, Ki Chang Seok, Kim Kyoung-Mee, Lee Myoung-Gun, Kim Sehwa, Bae Jae-Moon, Kim Jong-Won
Abstract excerpt
We report a novel mechanism of a CDH1 splicing mutation in a patient with signet ring cell carcinoma of the stomach. A 27-year-old man complaining of aggravated dyspepsia was diagnosed with signet ring cell carcinoma. Both his father and uncle had died of stomach cancer at a young age. DNA sequencing analysis of the CDH1 gene revealed a splice site mutation(c.833-2A>G). By RNA/cDNA sequencing analysis, CDH1...
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