A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis

Gut. 2017 Sep;66(9):1728-1730. doi: 10.1136/gutjnl-2017-313816. Epub 2017 Mar 3.

Affiliations

¹ Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
² Department of Molecular and Cell Biology, Center for Exocrine Disorders, Boston University Henry M. Goldman School of Dental Medicine, Boston, Massachusetts, USA.
³ Department of Gastroenterology, Hepatology and Feeding Disorders and Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.

No abstract available

Keywords: CHRONIC PANCREATITIS; GENETICS; PANCREATITIS.

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Chronic Disease
Humans
Mutation
Pancreatitis
Pancreatitis, Chronic*
Trypsin / genetics
Trypsin Inhibitor, Kazal Pancreatic*
Trypsinogen / genetics

Substances

Trypsin Inhibitor, Kazal Pancreatic
Trypsinogen
Trypsin

Supplementary concepts

Hereditary pancreatitis

Grants and funding

R01 DK058088/DK/NIDDK NIH HHS/United States