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Article

A novel functionally deficient MYH variant in individuals with colorectal adenomatous polyposis.

Human mutation - 1 Oct 2005

Alhopuro Pia, Parker Antony R, Lehtonen Rainer, Enholm Susa, Järvinen Heikki J, Mecklin Jukka-Pekka, Karhu Auli, Eshleman James R, Aaltonen Lauri A

Abstract excerpt

Inherited biallelic mutations in the base excision repair gene MYH confer susceptibility to colorectal adenomas and carcinoma. Approximately 85% of Caucasians with MYH mutations carry the (c.494A>G) p.Y165C and (c.1145G>A) p.G382D variants. Only a few other clearly pathogenic mutations have been identified, and mutation analyses tend to focus on the two founder mutations rather than the whole coding region of the...

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PMID: 16134146
DOI: 10.1002/humu.9368

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