A novel nonsense mutation in the EpCAM gene in a patient with congenital tufting enteropathy

Journal of Pediatric Gastroenterology and Nutrition

Volumn 58, Issue 1, 2014, Pages 18-21

  Thoeni, Cornelia ^a   Amir, Achiya ^b   Guo, Conghui ^c   Zhang, S ^c   Avitzur, Yaron ^c   Heng, Y M ^b   Cutz, Ernest ^b   Muise, Aleixo M ^c  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b Division of Pathology ^*  (United States)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

congenital tufting enteropathy; EpCAM mutations; intractable diarrhea

Indexed keywords

ARTICLE; CASE REPORT; CONGENITAL TUFTING ENTEROPATHY; DIARRHEA; DNA EXTRACTION; DUODENUM; DUODENUM BIOPSY; ENTEROPATHY; EPITHELIAL CELL ADHESION MOLECULE GENE; FEMALE; GENE; GENE EXPRESSION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; INTESTINE CELL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; TOTAL PARENTERAL NUTRITION; TRANSMISSION ELECTRON MICROSCOPY;

ANTIGENS, NEOPLASM; CELL ADHESION MOLECULES; CODON, NONSENSE; DIARRHEA, INFANTILE; DUODENUM; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INTESTINAL DISEASES; INTESTINAL MUCOSA; MALABSORPTION SYNDROMES;

EID: 84893681708     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0000000000000106     Document Type: Article

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