Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis-Reference-Cited by-同舟云学术

Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis

Published:2007-05 Issue:5 Volume:28 Page:469-476
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Király Orsolya,Boulling Arnaud,Witt Heiko,Le Maréchal Cédric,Chen Jian-Min,Rosendahl Jonas,Battaggia Cinzia,Wartmann Thomas,Sahin-Tóth Miklós,Férec Claude

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism;Arnold;J Clin Invest,1990

2. Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations;Bhatia;Gastroenterology,2002

3. Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis;Chandak;J Med Genet,2002

4. Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis;Chen;J Med Genet,2000

5. Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis;Chen;Gastroenterology,2001

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