SPINT2 (HAI‐2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI‐2 to inhibit prostasin but not matriptase
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DOI: 10.1093/hmg/ddy394
Abstract: Abstract The syndromic form of congenital sodium diarrhea (SCSD) is caused by bi‐allelic mutations in SPINT2, which encodes a Kunitz‐type serine protease inhibitor (HAI‐2). We report three novel SCSD patients, two novel SPINT2 mutations and… read more here.
Keywords: inhibit prostasin; matriptase; hai; sodium diarrhea ... See more keywords