Article
Characterization of a novel POLD1 missense founder mutation in a Spanish population.
The journal of gene medicine - 1 Apr 2017
Ferrer-Avargues Rosario, Díez-Obrero Virginia, Martín-Tomás Ester, Hernández-Illán Eva, Castillejo María-Isabel, Codoñer-Alejos Alan, Barberá Víctor-Manuel, Sánchez-Heras Ana-Beatriz, Segura Ángel, Juan María-José, Tena Isabel, Castillejo Adela, Soto José-Luis
Abstract excerpt
BACKGROUND: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain). METHODS: Clinical and molecular data were collected from four independent families known to have a POLD1 Leu474Pro mutation. To establish its founder effect, haplotype...
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