title: A novel p.Ser282ProCPA1variant is associated with autosomal dominant hereditary pancreatitis.
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Aleksandra A
authors.initials: AA
authors.lastname: Kujko
authors.affiliation: Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA.
authors.forename: Dorottya M
authors.initials: DM
authors.lastname: Berki
authors.affiliation: Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Oracz
authors.affiliation: Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Karolina
authors.initials: K
authors.lastname: Wejnarska
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Justyna
authors.initials: J
authors.lastname: Antoniuk
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wertheim-Tysarowska
authors.affiliation: Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors.forename: Elwira
authors.initials: E
authors.lastname: Kołodziejczyk
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Bal
authors.affiliation: Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA.
authors.forename: Miklós
authors.initials: M
authors.lastname: Sahin-Tóth
authors.affiliation: Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
authors.forename: Agnieszka M
authors.initials: AM
authors.lastname: Rygiel
mesh_terms: D002908:Chronic Disease; D006801:Humans; D009154:Mutation; D010195:Pancreatitis; D050500:Pancreatitis, Chronic; D014357:Trypsin / Q000235:genetics; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics
chemical_list: D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; D014357:Trypsin
keywords: CHRONIC PANCREATITIS; GENETICS; PANCREATITIS