Article
Relapsing pancreatitis due to a novel compound heterozygosity in the CFTR gene involving the second most common mutation in central and eastern Europe [CFTRdele2,3(21 kb)].
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] - 1 Jan 2005
Lamprecht Georg, Mau Ulrike A, Kortum Christian, Raible Armin, Stern Martin, Riess Olaf, Gregor Michael
Abstract excerpt
A 43-year-old otherwise healthy female patient presented with mild pancreatitis. Her family history revealed that her only son had cystic fibrosis. Genotyping of the patient demonstrated CFTR compound heterozygosity CFTRdele2,3(21 kb) and R117H and wild type alleles of the poly-T-tract in intron 8 (7T/7T). No mutations were detected in the cationic pancreatic trypsinogen (PRSS1) and the pancreatic secretory...
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