Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction

Endoscopy

Volumn 46, Issue 6, 2014, Pages 533-536

  Holla, Oystein L ^a   Bock, Gunter ^a   Busk, Oyvind L ^a   Isfoss, Björn Logi ^a  

^a TELEMARK HOSPITAL   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

ACTG2 PROTEIN; CISAPRIDE; METRONIDAZOLE; PANCREAS ENZYME; SMOOTH MUSCLE ACTIN; UNCLASSIFIED DRUG; ACTG2 PROTEIN, HUMAN; ACTIN;

ABDOMINAL DISCOMFORT; ABDOMINAL DISTENSION; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOATING; CASE REPORT; CHRONIC INTESTINAL PSEUDOOBSTRUCTION; COMPUTER ASSISTED TOMOGRAPHY; DIARRHEA; DIGESTIVE SYSTEM DISEASE; DISEASE ASSOCIATION; EXOME; EXOME SEQUENCING; EXPLORATORY LAPAROTOMY; FAMILIAL VISCERAL MYOPATHY; FAMILY HISTORY; FEMALE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; ILEUM; IMMUNOHISTOCHEMISTRY; IMMUNOHISTOLOGY; INTESTINAL DYSMOTILITY; INTESTINE BIOPSY; INTESTINE PSEUDOOBSTRUCTION; LAPAROTOMY; MIDDLE AGED; MYOPATHY; NEUROPATHY; NUCLEOTIDE SEQUENCE; PREMATURITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SMALL INTESTINE; SMOOTH MUSCLE; SYMPTOMATOLOGY; TISSUE SECTION; BLADDER; DUODENUM; GENETICS; PATHOLOGY; PEDIGREE;

ACTINS; DNA MUTATIONAL ANALYSIS; DUODENUM; EXOME; FEMALE; HUMANS; INTESTINAL PSEUDO-OBSTRUCTION; MIDDLE AGED; PEDIGREE; URINARY BLADDER;

EID: 84901775816     PISSN: 0013726X     EISSN: 14388812     Source Type: Journal    
DOI: 10.1055/s-0034-1365142     Document Type: Article

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