Article
Analysis of current testing practices for biallelic MUTYH mutations in MUTYH-associated polyposis.
Clinical genetics - 1 Apr 2015
Landon M, Ceulemans S, Saraiya D S, Strike B, Arnell C, Burbidge L A, Moyes K, Theisen A, Fernandes P H, Ji J Q, Abbott B, Kaldate R R, Roa B
Abstract excerpt
MUTYH-associated polyposis (MAP) is an autosomal recessive syndrome caused by biallelic mutations in the base excision repair gene MUTYH. Owing to potential limitations in the MAP testing strategy and testing criteria, it is possible that MAP is being under-identified both genotypically and phenotypically. To determine whether full sequencing of MUTYH would increase clinical sensitivity over a founder mutation...
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