SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase. [electronic resource]
Producer: 20200311Description: 828-841 p. digitalISSN:- 1460-2083
- Abnormalities, Multiple -- genetics
- Adolescent
- Amino Acid Sequence
- Child
- Child, Preschool
- Diarrhea -- congenital
- Disease Susceptibility
- Female
- Gene Expression Regulation
- Genetic Association Studies
- Humans
- Infant
- Male
- Membrane Glycoproteins -- chemistry
- Metabolism, Inborn Errors -- genetics
- Models, Biological
- Models, Molecular
- Mutation, Missense
- Phenotype
- Serine Endopeptidases -- metabolism
- Structure-Activity Relationship
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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