SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase
Hum Mol Genet . 2019 Mar 1;28(5):828-841. doi: 10.1093/hmg/ddy394. Andrew R Barclay, Paul Henderson, Henry Gowen, John Puntis; BIFS collaborators Lasse Holt-Danborg, Julia Vodopiutz, Annika W Nonboe, Jan De Laffolie, Signe Skovbjerg, Victorien M Wolters, Thomas Müller, Benjamin Hetzer, Alexander Querfurt, Klaus-Peter Zimmer, Jan K Jensen, Andreas Entenmann, Peter Heinz-Erian, Lotte K Vogel, Andreas R JaneckePMID: 30445423 DOI: 10.1093/hmg/ddy394 Abstract The syndromic form of congenital sodium diarrhea (SCSD) is caused by bi-allelic mutations […]