SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase-Reference-Cited by-同舟云学术

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase

Published:2018-11-15 Issue:5 Volume:28 Page:828-841
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Holt-Danborg Lasse¹,Vodopiutz Julia²,Nonboe Annika W¹,De Laffolie Jan³,Skovbjerg Signe¹,Wolters Victorien M⁴,Müller Thomas⁵,Hetzer Benjamin⁵,Querfurt Alexander⁶,Zimmer Klaus-Peter³,Jensen Jan K⁷,Entenmann Andreas⁵,Heinz-Erian Peter⁵,Vogel Lotte K¹,Janecke Andreas R⁵⁸^ORCID

Affiliation:

1. Department of Cellular and Molecular Medicine, The Panum Institute, University of Copenhagen, Denmark

2. Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna

3. Abteilung Allgemeine Pädiatrie und Neonatologie, Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Gießen, Germany

4. Department of Pediatric Gastroenterology, WKZ/ UMC Utrecht, Utrecht, The Netherlands

5. Department of Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria

6. Gesundheit Nord gGmbH, Klinikverbund Bremen, Klinik für Kinder und Jugendmedizin, Professor-Hess-Kinderklinik, Klinikum Bremen-Mitte, Bremen, Germany

7. Department of Molecular Biology and Genetics, Aarhus University, Aarhus, Denmark

8. Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria

Funder

Jubiläumsfonds der Österreichischen Nationalbank

Faculty of Health and Medical Sciences Foundation

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/28/5/828/27894928/ddy394.pdf

Reference47 articles.