Work

Pitfalls in the diagnosis of biallelic PMS2 mutations

Year: 2015

Type: article

Study design: Case Report

Source: Familial Cancer

DOI: 10.1007/s10689-015-9793-0

Authors: Marina Antelo, Daniela Milito, Jennifer Rhees, Enrique Roca, Miguel Barugel, Miriam Cuatrecasas, Leticia Moreira, Maria Liz Leoz, Sabela Carballal, Teresa Ocaña, Maria Pellisé, Antoni Castells, C. Richard Boland, Ajay Goel, Francesc Balaguer

Institutions: Baylor University Medical Center, Hospital Clínic de Barcelona, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Universitat de Barcelona

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Consejo Nacional de Investigaciones Científicas y Técnicas, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas, National Institutes of Health, Instituto de Salud Carlos III, National Cancer Institute

Awards: G1760674687, G251590960, G3062694220, G3411000325, G3650008479, “Desarrollo de biomarcadores de metilación en suero para la detección precoz de neoplasia colorrectal”, G7821796668, G9000140428, G9000182627

OpenAlex ID: W2019460587

FWCI: 1.613

Cites: 11

Cited by: 12

Related to: 10