High incidence of large deletions in thePMS2gene in Spanish Lynch syndrome families-Reference-Cited by-同舟云学术

High incidence of large deletions in thePMS2gene in Spanish Lynch syndrome families

Published:2013-07-28 Issue:6 Volume:85 Page:583-588
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Brea-Fernández A.J.¹²,Cameselle-Teijeiro J.M.³,Alenda C.⁴,Fernández-Rozadilla C.⁵,Cubiella J.⁶,Clofent J.⁷⁸,Reñé J.M.⁹,Anido U.¹⁰,Milá M.¹¹,Balaguer F.¹²,Castells A.¹²,Castellvi-Bel S.¹²,Jover R.²,Carracedo A.¹⁵,Ruiz-Ponte C.⁵

Affiliation:

1. Grupo de Medicina Xenómica-USC; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Santiago de Compostela Spain

2. Unidad de Investigación; Hospital General Universitario; Alicante Spain

3. Servicio de Anatomía Patológica, Hospital Clínico Universitario, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS); Universidad de Santiago de Compostela; Santiago de Compostela Spain

4. Servicio de Anatomía Patológica; Hospital General Universitario; Alicante Spain

5. Fundación Pública Galega de Medicina Xenómica (FPGMX)-SERGAS, Grupo de Medicina Xenómica; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Santiago de Compostela Spain

6. Servicio de Gastroenterología; Complexo Hospitalario Universitario de Ourense; Ourense Spain

7. Sección Aparato Digestivo, Servicio de Medicina Interna; Hospital de Sagunto; Sagunto Spain

8. Servicio de Gastroenterología; Complexo Hospitalario Universitario de Vigo; Spain

9. Servicio de Gastroenterología; Hospital Arnau de Vilanova; Lleida Spain

10. Servicio de Oncología Clínica; Complexo Hospitalario Universitario de Santiago; Santiago de Compostela Spain

11. Servicio de Bioquímica y Genética Molecular, Hospital Clínic, IDIBAPS; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Barcelona Spain

12. Servicio de Gastroenterología, Institut de Malalties Digestives i Metabòliques, Hospital Clínic, IDIBAPS; Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Universitat de Barcelona; Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference16 articles.

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2. Evolution of the nomenclature for the hereditary colorectal cancer syndromes;Boland;Fam Cancer,2005

3. Lynch syndrome genes;Peltomaki;Fam Cancer,2005

4. A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome;Clendenning;J Med Genet,2008

5. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations;Senter;Gastroenterology,2008

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