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Article

Genetic instability in lymphoblastoid cell lines expressing biallelic and monoallelic variants in the human MUTYH gene.

Human molecular genetics - 15 Jul 2014

Grasso Francesca, Giacomini Elisa, Sanchez Massimo, Degan Paolo, Gismondi Viviana, Mazzei Filomena, Varesco Liliana, Viel Alessandra, Bignami Margherita

Abstract excerpt

The MUTYH DNA glycosylase counteracts mutagenesis by removing adenine misincorporated opposite DNA 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG). Biallelic germline mutations in MUTYH cause the autosomal recessive MUTYH-associated polyposis (MAP). The impact on genetic instability of the p.Tyr179Cys and p.Arg245His MUTYH variants was evaluated in lymphoblastoid cell lines (LCLs) derived from MAP patients and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24569162
DOI: 10.1093/hmg/ddu097

Genes

MUTYH

Variants

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