A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.
Farzaneh PouyaAfsaneh Mojtabanezhad ShariatpanahiKamran GhaffarzadeganSeyed Abbas Tabatabaee YazdiHamed GolmohammadzadehGhodratollah SoltaniKian Aminian ToosiMohammad Amin KerachianPublished in: Molecular genetics & genomic medicine (2018)
This novel deletion is the first report, describing the largest deletion of APC gene. Our novel finding contributes to a more comprehensive database of germ line mutations of APC gene that could be used in medical practice for the molecular diagnosis, risk assessment susceptibility of the disease for the FAP patients.
Keyphrases
- risk assessment
- copy number
- genome wide
- end stage renal disease
- healthcare
- genome wide identification
- ejection fraction
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- dna methylation
- emergency department
- heavy metals
- human health
- early onset
- chronic rhinosinusitis
- single molecule
- climate change
- drug induced