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Signal Peptide Variants that Impair Secretion of Pancreatic Secretory Trypsin Inhibitor (SPINK1) Cause Autosomal Dominant Hereditary Pancreatitis

Variants of the SPINK1 gene encoding pancreatic secretory trypsin inhibitor have been described in association with chronic pancreatitis. These alterations are believed to cause a loss of function by either impairing the trypsin inhibitory activity or reducing expression. Here we report two novel SP...

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Bibliografiske detaljer
Main Authors: Király, Orsolya, Boulling, Arnaud, Witt, Heiko, Maréchal, Cédric Le, Chen, Jian-Min, Rosendahl, Jonas, Battaggia, Cinzia, Wartmann, Thomas, Sahin-Tóth, Miklós, Férec, Claude
Format: Artigo
Sprog:Inglês
Udgivet: 2007
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2765331/
https://ncbi.nlm.nih.gov/pubmed/17274009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20471
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