Associated Papers
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.
Huang N et al.
Human Molecular Genetics, 2024
A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.
Zhang XX et al.
World Journal of Pediatrics : Wjp, 2022
Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.
Bou Chaaya S et al.
Bmj Case Reports, 2017
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