title: High Penetrance of the PRSS1 A16V Mutation in a Kindred With SPINK1 N34S and CFTR TG11-5T Co-mutations.
authors.affiliation: Division of Gastroenterology Department of Medicine The Johns Hopkins Medical Institutions Baltimore, MD rmoran13@jhmi.edu Division of Gastroenterology Department of Medicine The General University Hospital of Alicante Alicante, Spain Division of Gastroenterology Department of Medicine The Johns Hopkins Medical Institutions Baltimore, MD Division of Gastroenterology Department of Medicine The General University Hospital of Alicante Alicante, Spain Division of Gastroenterology Department of Medicine The Johns Hopkins Medical Institutions Baltimore, MD.
authors.forename: Robert A
authors.initials: RA
authors.lastname: Moran
authors.forename: Noe
authors.initials: N
authors.lastname: Quesada-Vazquez
authors.forename: Amitasha
authors.initials: A
authors.lastname: Sinha
authors.forename: Enrique
authors.initials: E
authors.lastname: de-Madaria
authors.forename: Vikesh K
authors.initials: VK
authors.lastname: Singh
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010195:Pancreatitis / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance; D010641:Phenotype; D012307:Risk Factors; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin