Correction: A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations
نویسندگان
چکیده
Exon 2 5'-ACTGCAGGGAGTGAACTGCT-3' 5'-TTATTTTGCGTTTGGTGCAG-3' Exon 3 5'-CGATGATTCAAACCCAGCTT-3' 5'-CCTGCTTCTTCTGATCCTGC-3' Exon 4 Part I 5'-AGAAAGCCACCTCCACAACA-3' 5'-CAGATCTTGAGCCCCTCATC-3' Exon 4 Part II 5'-TGGCCAGCCAGATCTTGC-3' 5'-GCAGCCCAACTCTGCTTTAT-3' Exon 5 5'-TGGGGCTTGTACTCATTCTT-3' 5'-CTGGTTTTCTGATGGACAGC-3' Exon 6 5'-CCCTGACCCTACAACT-3' 5'-AGAGGGGTTCCCTTAC-3' Exon 7 Part I 5'-ACACATTTTAGTCTGGTGCC-3' 5'-CATGCTGAAGGTGATGAAC-3' Exon 7 Part II 5'-GCCGGAGAACTTCAATG-3' 5'-CTCCCTAGCCCAGTCTT-3'
منابع مشابه
A novel mutation of the calcium sensing receptor gene is associated with chronic pancreatitis in a family with heterozygous SPINK1 mutations
BACKGROUND The role of mutations in the serine protease inhibitor Kazal type 1 (SPINK1) gene in chronic pancreatitis is still a matter of debate. Active SPINK1 is thought to antagonize activated trypsin. Cases of SPINK1 mutations, especially N34S, have been reported in a subset of patients with idiopathic chronic pancreatitis. However, the inheritance pattern is still unknown. Some cases with N...
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Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...
متن کاملComprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study
OBJECTIVE Genetic alterations may contribute to chronic pancreatitis (CP) in Chinese young patients. This study was designed to investigate mutations of cationic trypsinogen (PRSS1), pancreatic secretory trypsin inhibitor or serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsin C (CTRC) and CLDN2 genes and the copy number varia...
متن کاملMutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.
BACKGROUND Although chronic pancreatitis is associated with risk factors such as alcoholism, hyperparathyroidism, and hypertriglyceridaemia, little is known of the actual aetiology of the disease. It is thought that inappropriate activation of trypsinogen causes pancreatitis, and indeed in cases of hereditary pancreatitis mutations of cationic trypsinogen (PRSS1) have been described. As serine ...
متن کاملChronic pancreatitis associated with the p.G208A variant of PRSS1 gene in a European patient.
CONTEXT The major etiologic factor of chronic pancreatitis in adults is excessive alcohol consumption, whereas among children structural anomalies, systemic and metabolic disorders, and genetic factors are prevalent. Mutations in the cationic trypsinogen gene (PRSS1) cause hereditary pancreatitis, while mutations in serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane ...
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عنوان ژورنال:
- BMC Gastroenterology
دوره 4 شماره
صفحات -
تاریخ انتشار 2004