Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
about
Biochemical models of hereditary pancreatitisMortality rate and risk factors in patients with hereditary pancreatitis: uni- and multidimensional analysesA conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patientsGenetic Risk in Chronic Pancreatitis: The Trypsin-Dependent Pathway.Assessing the pathological relevance of SPINK1 promoter variants.Human mesotrypsin defies natural trypsin inhibitors: from passive resistance to active destruction.Biochemistry and clinical role of trypsinogens and pancreatic secretory trypsin inhibitor.Framework for interpretation of genetic variations in pancreatitis patients.Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis.Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitisGenetics of pancreatitis with a focus on the pancreatic ducts.Protection against chronic pancreatitis and pancreatic fibrosis in mice overexpressing pancreatic secretory trypsin inhibitor.Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation.Association of rare SPINK1 gene mutation with another base substitution in chronic pancreatitis patients.[-215G>A; IVS3+2T>C] mutation in the SPINK1 gene causes exon 3 skipping and loss of the trypsin binding site.Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.Bull’s-eye pattern of pancreatic-duct stones on multidetector computed tomography and gene-mutation-associated pancreatitis (GMAP)
P2860
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P2860
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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name
Two novel severe mutations in ...... nd/or hereditary pancreatitis.
@en
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene
@nl
type
label
Two novel severe mutations in ...... nd/or hereditary pancreatitis.
@en
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene
@nl
prefLabel
Two novel severe mutations in ...... nd/or hereditary pancreatitis.
@en
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene
@nl
P2093
P356
P1433
P1476
Two novel severe mutations in ...... nd/or hereditary pancreatitis.
@en
P2093
Chipponi J
Chuzhanova NA
Le Maréchal C
Raguénès O
P356
10.1002/HUMU.9212
P577
2004-02-01T00:00:00Z