A remarkable APC mosaicism with two mutant alleles in a family with familial adenomatous polyposis

Am J Med Genet A. 2011 Jun;155A(6):1500-2. doi: 10.1002/ajmg.a.34017. Epub 2011 May 12.

Authors

Stéphanie Baert-Desurmont¹, Nicolas Piton, Jacqueline Bou, Julie Tinat, Rosine Guimbaud, Janick Selves, Thierry Frébourg

Affiliation

¹ Inserm U, Faculty of Medicine, University of Rouen, Department of Genetics, University Hospital, Institute for Medical Research and Innovation, France.

PMID: 21567933
DOI: 10.1002/ajmg.a.34017

No abstract available

MeSH terms

Adenomatous Polyposis Coli / genetics*
Adenomatous Polyposis Coli Protein / genetics*
Adult
Base Sequence
France
Haplotypes / genetics
Humans
Male
Middle Aged
Molecular Sequence Data
Mosaicism*
Pedigree
Point Mutation / genetics
Sequence Analysis, DNA
Sequence Deletion / genetics

Substances

APC protein, human
Adenomatous Polyposis Coli Protein