A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an <it>APC</it> large deletion in a familial adenomatous polyposis patient with an unusual phenotype

• Autors principals: Torrezan Giovana (Autor), da Silva Felipe Cavalcanti (Autor), Krepischi Ana Cristina (Autor), dos Santos Érika Maria (Autor), Rossi Benedito (Autor), Carraro Dirce (Autor)
• Format: Llibre
• Publicat: BMC, 2012-07-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer syndrome caused by a loss of function of the <it>APC</it> gene. Large deletions in <it>APC</it> are a common cause of FAP; despite the exi...