Holt-Danborg, Lasse <br/><br/>
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] 

 -  Human molecular genetics  03 2019 
 - 828-841 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddy394  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Amino Acid Sequence<br/>Child<br/>Child, Preschool<br/>Diarrhea--congenital<br/>Disease Susceptibility<br/>Female<br/>Gene Expression Regulation<br/>Genetic Association Studies<br/>Humans<br/>Infant<br/>Male<br/>Membrane Glycoproteins--chemistry<br/>Metabolism, Inborn Errors--genetics<br/>Models, Biological<br/>Models, Molecular<br/>Mutation, Missense<br/>Phenotype<br/>Serine Endopeptidases--metabolism<br/>Structure-Activity Relationship