Functional Analysis of a Missense Mutation in the Serine Protease Inhibitor SPINT2 Associated with Congenital Sodium Diarrhea

Membrane-bound serine proteases play important roles in different biological processes. Their regulation by endogenous inhibitors is poorly understood. A Y163C mutation in the SPINT2 gene encoding the serine protease inhibitor Hepatocyte Growth Factor Inhibitor HAI-2 is associated with a congenital...

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Detalles Bibliográficos
Autores principales: Faller, Nicolas, Gautschi, Ivan, Schild, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983116/
https://www.ncbi.nlm.nih.gov/pubmed/24722141
http://dx.doi.org/10.1371/journal.pone.0094267

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3983116/
https://www.ncbi.nlm.nih.gov/pubmed/24722141
http://dx.doi.org/10.1371/journal.pone.0094267

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