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Open AccessResearch article

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

Gunilla Kanter-Smoler1,5 email, Kaisa Fritzell2 email, Anna Rohlin1 email, Yvonne Engwall1 email, Birgitta Hallberg1 email, Annika Bergman1 email, Johan Meuller1,6 email, Henrik Grönberg3 email, Per Karlsson4 email, Jan Björk2 email and Margareta Nordling1 email

1Department of Molecular and Clinical Genetics, Institute of Biomedicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden

2The Swedish Polyposis Registry, Department of Medicine, Karolinska Institute, Stockholm, Sweden

3Department of Medical Epidemiology and Biostatistics Karolinska Institutet, Stockholm, Sweden

4Department of Oncology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden

5AstraZeneca R&D Mölndal, ATCG, HE 351, Mölndal, Sweden

6AstraZeneca R&D Mölndal, Structural Chemistry Laboratory, SC425, Mölndal, Sweden

author email corresponding author email

BMC Medicine 2008, 6:10doi:10.1186/1741-7015-6-10

Published: 24 April 2008

Additional files

Additional file 1:

Clinical characterization of mutation-positive data. A compilation of all of the clinical data of the APC gene mutation carriers.

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Additional file 2:

Pathogenic mutations detected in the APC gene. Description of all mutations and the molecular genetic consequence of each mutation [52-66].

Format: DOC Size: 218KB Download file

This file can be viewed with: Microsoft Word Viewer


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