title: Pedigree of a kindred with Transheterozygous PRSS1 R122C and SPINK1 N34S mutations.
authors.affiliation: Division of Gastroenterology Johns Hopkins Medical Institutions Baltimore, MD Krieger School of Arts and Sciences Johns Hopkins University Baltimore, MD Division of Gastroenterology Johns Hopkins Medical Institutions Baltimore, MD Pancreatitis Center Division of Gastroenterology Johns Hopkins Medical Institutions Baltimore, MD vsingh1@jhmi.edu.
authors.forename: Amitasha
authors.initials: A
authors.lastname: Sinha
authors.forename: Deanna
authors.initials: D
authors.lastname: Cotsalas
authors.forename: Venkata S
authors.initials: VS
authors.lastname: Akshintala
authors.forename: Elham
authors.initials: E
authors.lastname: Afghani
authors.forename: Vikesh K
authors.initials: VK
authors.lastname: Singh
mesh_terms: D002114:Calcinosis / Q000150:complications / Q000175:diagnosis; D002352:Carrier Proteins / Q000235:genetics*; D002760:Cholangiopancreatography, Endoscopic Retrograde; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D050500:Pancreatitis, Chronic / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D014357:Trypsin / Q000235:genetics*; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin