Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

Gut

Volumn 65, Issue 8, 2016, Pages 1306-1313

  Müller, Thomas ^a   Rasool, Insha ^b   Heinz Erian, Peter ^a   Mildenberger, Eva ^c   Hülstrunk, Christian ^c   Müller, Andreas ^d   Michaud, Laurent ^e   Koot, Bart G P ^f   Ballauff, Antje ^g   Vodopiutz, Julia ^h   Rosipal, Stefan ⁱ   Petersen, Britt Sabina ^j   Franke, Andre ^j   Fuchs, Irene ^a   Witt, Heiko ^k   Zoller, Heinz ^l   Janecke, Andreas R ^a   Visweswariah, Sandhya S ^c  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b INDIAN INSTITUTE OF SCIENCE   (India)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d AbtNeonatologie (NIPS) Perinatalzentrum   (Germany)

^e LILLE UNIVERSITY HOSPITAL   (France)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g HELIOS KLINIKUM KREFELD   (Germany)

^h UNIV KLIN KINDER JUGENDHEILKUNDE   (Austria)

ⁱ Slovak Health University   (Slovakia)

^j UNIVERSITY OF KIEL   (Germany)

^k TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^l INNSBRUCK MEDICAL UNIVERSITY   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE; GUANYLATE CYCLASE C; UNCLASSIFIED DRUG; ATRIAL NATRIURETIC FACTOR RECEPTOR; ENTEROTOXIN RECEPTOR; GUANOSINE PHOSPHATE; RECEPTOR; SODIUM;

ARTICLE; BINDING AFFINITY; CASE REPORT; CHILD; CHRONIC ARTHRITIS; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL SECRETORY DIARRHEA; COPY NUMBER VARIATION; DIARRHEA; DISEASE CLASSIFICATION; DISEASE SEVERITY; FECES LEVEL; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GUCY2C GENE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INFLAMMATORY BOWEL DISEASE; MALE; MICROARRAY ANALYSIS; MISSENSE MUTATION; ONSET AGE; PATHOGENESIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TOTAL PARENTERAL NUTRITION; GENETIC PREDISPOSITION; GENETICS; INBORN ERROR OF METABOLISM; INFANT; INTESTINE; INTESTINE ABSORPTION; METABOLISM; MULTIPLE MALFORMATION SYNDROME; PATHOPHYSIOLOGY;

ABNORMALITIES, MULTIPLE; DIARRHEA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GUANOSINE MONOPHOSPHATE; HUMANS; INFANT; INTESTINAL ABSORPTION; INTESTINES; MALE; METABOLISM, INBORN ERRORS; MUTATION, MISSENSE; RECEPTORS, GUANYLATE CYCLASE-COUPLED; RECEPTORS, PEPTIDE; SODIUM;

EID: 84931312944     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2015-309441     Document Type: Article

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