Characterization of a novel POLD1 missense founder mutation in a Spanish population.

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).

Detalles Bibliográficos
Autores: Ferrer-Avargues R, Diez-Obrero V, Martin-Tomas E, Hernandez-Illan E, Castillejo MI, Codoner-Alejos A, Barbera VM, Sanchez-Heras AB, Segura A, Juan MJ, Tena I, Castillejo A, Soto JL
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
Repositorio:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
OAI Identifier:oai:isabial.fundanetsuite.com:p2335
Acceso en línea:https://isabial.portalinvestigacion.com/publicaciones2335
Access Level:acceso abierto
Palabra clave:colon/rectal cancer, molecular genetics
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spelling Characterization of a novel POLD1 missense founder mutation in a Spanish population.Ferrer-Avargues RDiez-Obrero VMartin-Tomas EHernandez-Illan ECastillejo MICodoner-Alejos ABarbera VMSanchez-Heras ABSegura AJuan MJTena ICastillejo ASoto JLcolon/rectal cancer, molecular geneticsWe 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).WILEY2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttps://isabial.portalinvestigacion.com/publicaciones2335JOURNAL OF GENE MEDICINEISSN: 1099498XISSNe: 15212254reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicanteinstname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)Inglésinfo:eu-repo/semantics/openAccessoai:isabial.fundanetsuite.com:p23352026-06-12T10:20:37Z
dc.title.none.fl_str_mv Characterization of a novel POLD1 missense founder mutation in a Spanish population.
title Characterization of a novel POLD1 missense founder mutation in a Spanish population.
spellingShingle Characterization of a novel POLD1 missense founder mutation in a Spanish population.
Ferrer-Avargues R
colon/rectal cancer, molecular genetics
title_short Characterization of a novel POLD1 missense founder mutation in a Spanish population.
title_full Characterization of a novel POLD1 missense founder mutation in a Spanish population.
title_fullStr Characterization of a novel POLD1 missense founder mutation in a Spanish population.
title_full_unstemmed Characterization of a novel POLD1 missense founder mutation in a Spanish population.
title_sort Characterization of a novel POLD1 missense founder mutation in a Spanish population.
dc.creator.none.fl_str_mv Ferrer-Avargues R
Diez-Obrero V
Martin-Tomas E
Hernandez-Illan E
Castillejo MI
Codoner-Alejos A
Barbera VM
Sanchez-Heras AB
Segura A
Juan MJ
Tena I
Castillejo A
Soto JL
author Ferrer-Avargues R
author_facet Ferrer-Avargues R
Diez-Obrero V
Martin-Tomas E
Hernandez-Illan E
Castillejo MI
Codoner-Alejos A
Barbera VM
Sanchez-Heras AB
Segura A
Juan MJ
Tena I
Castillejo A
Soto JL
author_role author
author2 Diez-Obrero V
Martin-Tomas E
Hernandez-Illan E
Castillejo MI
Codoner-Alejos A
Barbera VM
Sanchez-Heras AB
Segura A
Juan MJ
Tena I
Castillejo A
Soto JL
author2_role author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv colon/rectal cancer, molecular genetics
topic colon/rectal cancer, molecular genetics
description 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).
publishDate 2017
dc.date.none.fl_str_mv 2017
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://isabial.portalinvestigacion.com/publicaciones2335
url https://isabial.portalinvestigacion.com/publicaciones2335
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv WILEY
publisher.none.fl_str_mv WILEY
dc.source.none.fl_str_mv JOURNAL OF GENE MEDICINE
ISSN: 1099498X
ISSNe: 15212254
reponame:r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
instname:Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
instname_str Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)
reponame_str r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
collection r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812429

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