Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients
نویسندگان
چکیده
منابع مشابه
Co-existence of CFTR and SPINK1 Gene Mutations in an Idiopathic Chronic Pancreatitis Case
Familial aggregation of CP suggests genetic factors for disease without definitive mode of inheritance. The hypothesized primary putative gene for CP includes SPINK1, CTSB, CTRC, PRSS1 and CFTR. These genes interact with each other and exhibit a variable phenotype in patients. The present report describes a male adult aged 42 years with a complaint of severe recurrent pain in the abdomen and we...
متن کاملGenetic mutations in SPINK1, CFTR, CTRC in acute pancreatitis
Background. The explanation of the ultimate causes of acute and chronic pancreatitis is
متن کاملGenetic mutations in SPINK1, CFTR, CTRC genes in acute pancreatitis
BACKGROUND Explanation of the ultimate causes of acute and chronic pancreatitis is challenging. Hence, it is necessary to seek various etiological factors, including genetic mutations that may be of importance in triggering recurrence and progression of acute to chronic pancreatitis. The aim of this study was to determine the frequency of genetic mutations in patients with acute pancreatitis an...
متن کاملELECTRONIC LETTER SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations
Hereditary pancreatitis (HP) is an inborn disorder which leads to recurrent episodes of pancreatitis in children and young adults and is associated with exocrine pancreatic insufficiency and secondary diabetes. Several germline mutations in the cationic trypsinogen (PRSS1) gene have been found to be associated with the disease phenotype, the most common of which are the R122H, N29I, and A16V mu...
متن کاملSPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations.
Hereditary pancreatitis (HP) is an inborn disorder which leads to recurrent episodes of pancreatitis in children and young adults and is associated with exocrine pancreatic insufficiency and secondary diabetes. Several germline mutations in the cationic trypsinogen (PRSS1) gene have been found to be associated with the disease phenotype, the most common of which are the R122H, N29I, and A16V mu...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2003
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5200989