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

BACKGROUND: Familial adenomatous polyposis (FAP) is a hereditary colorectal cancer syndrome caused by a loss of function of the APC gene. Large deletions in APC are a common cause of FAP; despite the existence of a variety of gene dosage detection methodologies, most are labor intensive and time and...

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Hauptverfasser: Torrezan, Giovana Tardin, da Silva, Felipe Cavalcanti Carneiro, Krepischi, Ana Cristina Victorino, dos Santos, Érika Maria Monteiro, Rossi, Benedito Mauro, Carraro, Dirce Maria
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2012
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3458979/
https://ncbi.nlm.nih.gov/pubmed/22799487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-13-55
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