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Difference between revisions of "MUTYH polyposis syndrome"
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MUTYH polyposis syndrome (view source)
Revision as of 00:18, 14 December 2011
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The ''MUTYH gene'' is a mismatch repair gene. Mutations lead to defective base excision repair - specifically, more transversions.<ref name=omim604933/> | The ''MUTYH gene'' is a mismatch repair gene. Mutations lead to defective base excision repair - specifically, more transversions.<ref name=omim604933/> | ||
==Microscopic== | |||
Features: | |||
*Commonly manifest as a mix of polyps - including:<ref name=pmid19013464>{{Cite journal | last1 = Boparai | first1 = KS. | last2 = Dekker | first2 = E. | last3 = Van Eeden | first3 = S. | last4 = Polak | first4 = MM. | last5 = Bartelsman | first5 = JF. | last6 = Mathus-Vliegen | first6 = EM. | last7 = Keller | first7 = JJ. | last8 = van Noesel | first8 = CJ. | title = Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. | journal = Gastroenterology | volume = 135 | issue = 6 | pages = 2014-8 | month = Dec | year = 2008 | doi = 10.1053/j.gastro.2008.09.020 | PMID = 19013464 }}</ref> | |||
**[[Hyperplastic polyp]]s, and | |||
**[[Sessile serrated adenoma]]s. | |||
==See also== | ==See also== | ||