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

• Päätekijät: Torrezan Giovana (Tekijä), da Silva Felipe Cavalcanti (Tekijä), Krepischi Ana Cristina (Tekijä), dos Santos Érika Maria (Tekijä), Rossi Benedito (Tekijä), Carraro Dirce (Tekijä)
• Aineistotyyppi: Kirja
• Julkaistu: BMC, 2012-07-01T00:00:00Z.
• Aiheet: article
• Linkit: 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...