Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency

American Journal of Human Genetics

Volumn 70, Issue 1, 2002, Pages 20-25

  Holzinger, Andreas ^a   Maier, Esther M ^a   Bück, Cornelius ^a   Mayerhofer, Peter U ^a   Kappler, Matthias ^a   Haworth, James C ^b   Moroz, Stanley P ^b   Hadorn, Hans Beat ^a   Sadler, J Evan ^c   Roscher, Adelbert A ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MANITOBA   (Canada)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ENTEROPEPTIDASE; ENZYME PRECURSOR; GENE PRODUCT;

ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ENZYME DEFICIENCY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE STRUCTURE; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

EID: 18244378028     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/338456     Document Type: Article

References (24)

1. Identification of a peptide released during autocatalytic activation of trypsinogen
2. Distribution of enterokinase activity in the human intestine
3. Intestinal enterokinase deficiency
4. Isolated congenital enterokinase deficiency. Recent findings and review of the literature
5. Primary intestinal enteropeptidase deficiency
6. Intestinal enterokinase deficiency
7. Mal-absorption and growth failure due to intestinal enterokinase deficiency
8. Intestinal enterokinase deficiency: Occurrence in two sibs and age dependency of clinical expression
9. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments
10. The autoactivation of trypsinogen
11. cDNA sequence and chromosomal localization of human enterokinase, the proteolytic activator of trypsinogen
12. Enterokinase, the initiator of intestinal digestion, is a mosaic protease composed of a distinctive assortment of domains
13. Cloning and functional expression of a cDNA encoding the catalytic subunit of bovine enterokinase
14. Enterokinase and trypsin activities in pancreatic insufficiency and diseases of the small intestine
15. High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones
16. Crystal structure of enteropeptidase light chain complexed with an analog of the trypsinogen activation peptide
17. Purification and specificity of porcine enterokinase
18. Arrhythmogenic right ventricular dysplasia in a child with congenital enteropeptidase deficiency and hypogammaglobulinaemia
19. Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase
20. Déficience en entérokinase: A propos d'une observation
21. Pseudodéficit entrypsinogène par déficit en entérokinase: Étude clinique
22. Intestinal enterokinase deficiency: A newly-recognized disorder of protein digestion
23. Die Physiologie des Darmsaftes
24. Activation of recombinant proenteropeptidase by duodenase