Congenital sucrase-isomaltase deficiency: Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment

Journal of Clinical Investigation

Volumn 97, Issue 3, 1996, Pages 633-641

  Ouwendijk, Joke ^a   Moolenaar, Catharina E C ^b   Peters, Wilma J ^a   Hollenberg, Cornelis P ^b   Ginsel, Leo A ^a   Fransen, Jack A M ^a   Naim, Hassan Y ^b  

^a RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

^b HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

ERGIC 53; intestine; processing; quality control; retention

Indexed keywords

SUCRASE ISOMALTASE;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOHYDRATE INTOLERANCE; CARBOHYDRATE METABOLISM; CLINICAL FEATURE; DIARRHEA; ENDOPLASMIC RETICULUM; ENZYME DEFICIENCY; GOLGI COMPLEX; HUMAN; HUMAN TISSUE; INTESTINE ABSORPTION; INTESTINE BRUSH BORDER; INTRACELLULAR TRANSPORT; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0030062178     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI118459     Document Type: Article

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