Difference between revisions of "MUTYH polyposis syndrome"
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''' | '''MUTYH polyposis syndrome''', also '''MYH polyposis syndrome''', is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of [[colorectal carcinoma]].<ref name=omim604933>{{OMIM|604933}}</ref> | ||
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/> | ||
==See also== | ==See also== |
Revision as of 15:26, 3 August 2011
MUTYH polyposis syndrome, also MYH polyposis syndrome, is an autosomal recessive syndrome characterized by numerous polyps and an increased risk of colorectal carcinoma.[1]
The MUTYH gene is a mismatch repair gene. Mutations lead to defective base excision repair - specifically, more transversions.[1]
See also
References
External links
MYH-associated polyposis—a new familial colorectal cancer syndrome without a family history (nzma.org.nz)].