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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: 2007
Sujets:
Article
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires