Case Report
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World J Gastroenterol. Oct 21, 2012; 18(39): 5635-5639
Published online Oct 21, 2012. doi: 10.3748/wjg.v18.i39.5635
A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results
Fabrice Airaud, Sébastien Küry, Isabelle Valo, Ingrid Maury, Dominique Bonneau, Olivier Ingster, Stéphane Bezieau
Fabrice Airaud, Sébastien Küry, Ingrid Maury, Stéphane Bezieau, CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France
Isabelle Valo, Institut de Cancérologie de l’Ouest, Service d’Anatomie et Cytologie Pathologique, 2 rue Moll, 49933 Angers Cedex 9, France
Dominique Bonneau, Olivier Ingster, CHU Angers, Service de Génétique Médicale, 4 rue Larrey, 49933 Angers, France
Author contributions: Airaud F, Küry S and Bezieau S designed research and wrote the paper; Valo I performed the anatomopathology research; Maury I performed the molecular biology research; and Bonneau D and Ingster O performed the clinical investigation.
Correspondence to: Fabrice Airaud, MSc, CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France. fabrice.airaud@chu-nantes.fr
Telephone: +33-240-084299 Fax: +33-240-084026
Received: April 4, 2012
Revised: June 14, 2012
Accepted: July 18, 2012
Published online: October 21, 2012
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