Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea

PLoS ONE

Volumn 9, Issue 4, 2014, Pages

  Faller, Nicolas ^a   Gautschi, Ivan ^a   Schild, Laurent ^a  

^a UNIVERSITY OF LAUSANNE   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

HEPATOCYTE GROWTH FACTOR ACTIVATOR INHIBITOR 2; SERINE PROTEINASE; SERINE PROTEINASE INHIBITOR; TMPRSS13 PROTEIN; UNCLASSIFIED DRUG; HAI-2 PROTEIN, MOUSE; MEMBRANE PROTEIN; MESSENGER RNA; SPINT2 PROTEIN, HUMAN; THIOL DERIVATIVE;

ADULT; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CONGENITAL SODIUM DIARRHEA; CONTROLLED STUDY; DIARRHEA; DRUG POTENCY; ENZYME INHIBITION; GASTROINTESTINAL TRACT; GENE; HUMAN; LIVER CELL; MISSENSE MUTATION; MOUSE; NONHUMAN; SPINT2 GENE; XENOPUS LAEVIS; ANIMAL; C57BL MOUSE; CELL MEMBRANE; CHEMISTRY; CYTOLOGY; GENE DELETION; GENETICS; IC50; INBORN ERROR OF METABOLISM; METABOLISM; MULTIPLE MALFORMATION SYNDROME; OOCYTE; PROTEIN TERTIARY STRUCTURE; REPORTER GENE; TISSUE DISTRIBUTION;

ABNORMALITIES, MULTIPLE; ANIMALS; CELL MEMBRANE; DIARRHEA; GASTROINTESTINAL TRACT; GENE DELETION; GENES, REPORTER; HUMANS; INHIBITORY CONCENTRATION 50; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; METABOLISM, INBORN ERRORS; MICE; MICE, INBRED C57BL; MUTATION, MISSENSE; OOCYTES; PROTEIN STRUCTURE, TERTIARY; RNA, MESSENGER; SERINE PROTEASES; SERINE PROTEINASE INHIBITORS; SULFHYDRYL COMPOUNDS; TISSUE DISTRIBUTION; XENOPUS LAEVIS;

EID: 84899505887     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0094267     Document Type: Article

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