Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large

Chronic Pancreatitis: The True Pathogenic Culprit within the <i>SPINK1</i> N34S-Containing Haplotype Is No Longer at Large

A diverse range of loss-of-function variants in the <i>SPINK1</i> gene (encoding pancreatic secretory trypsin inhibitor) has been identified in patients with chronic pancreatitis (CP). The haplotype harboring the <i>SPINK1</i> c.101A>G (p.Asn34Ser or N34S) variant (rs17107...

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Détails bibliographiques
Auteurs principaux: Na Pu, Emmanuelle Masson, David N. Cooper, Emmanuelle Génin, Claude Férec, Jian-Min Chen
Format: article
Langue:EN
Publié: MDPI AG 2021
Sujets:
chronic pancreatitis
enhancer
linkage disequilibrium
regulatory variant
<i>SPINK1</i> gene
Genetics
QH426-470
Accès en ligne:https://doaj.org/article/deae52af45644327aa07400357a04fe0
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https://doaj.org/article/deae52af45644327aa07400357a04fe0

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