lunes, 20 de agosto de 2012

European Journal of Human Genetics - Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

full-text:
European Journal of Human Genetics - Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012


Clinical Utility Gene Card Update

European Journal of Human Genetics advance online publication 8 August 2012; doi: 10.1038/ejhg.2012.163

Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012

Stefan Aretz1, Maurizio Genuardi2,3 and Frederik J Hes4
  1. 1Institute of Human Genetics, University of Bonn, Bonn, Germany
  2. 2Medical Genetics Unit, Department of Clinical Pathophysiology, University of Florence, Tuscan Tumor Institute, Florence, Italy
  3. 3Tuscan Tumor Institute, Florence, Italy
  4. 4Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Correspondence: Dr S Aretz, Institute of Human Genetics, University of Bonn, Sigmund-Freud-Strasse 25, Bonn 53127, Germany. Tel: +49 228 287 51009; Fax: +49 228 287 51011; E-mail: stefan.aretz@uni-bonn.de
Update to: European Journal of Human Genetics (2010) 18, 1071; doi:10.1038/ejhg.2010.77; published online 26 May 2010
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1. Disease characteristics

1.1 Name of the disease (synonyms)

MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP).

1.2 OMIM# of the disease

608456.

1.3 Name of the analysed genes or DNA/chromosome segments

MUTYH (MYH, outdated name of the gene).

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