Cryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-α

Gut

Volumn 63, Issue 1, 2014, Pages 96-104

  Brooke, Matthew A ^a   Longhurst, Hilary J ^b   Plagno, Vincent ^c   Kirkby, Nicholas S ^a,d   Mitchell, Jane A ^d   Rüschendorf, Franz ^e   Warner, Timothy D ^a   Kelsell, David P ^a   MacDonald, Thomas T ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b BARTS HEALTH NHS TRUST   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^e MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSOLIC PHOSPHOLIPASE A2; CYTOSOLIC PHOSPHOLIPASE A2 ALPHA; THROMBOXANE A2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CONTROLLED STUDY; CRYPTOGENIC MULTIFOCAL ULCERATING STENOSING ENTERITIS; ENTERITIS; ENZYME MECHANISM; EXOME; EXON; FEMALE; FRAMESHIFT MUTATION; GENE LOCATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INDEL MUTATION; MALE; MUTATOR GENE; NUCLEOTIDE SEQUENCE; PLA2G4A GENE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; THROMBOCYTE AGGREGATION;

GENE MUTATION; INFLAMMATORY BOWEL DISORDERS; NON-STEROIDAL ANTI-INFLAMMATORY DRUGS;

ADULT; BIOLOGICAL MARKERS; BLOTTING, WESTERN; CASE-CONTROL STUDIES; CODON, NONSENSE; ENTERITIS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE; FRAMESHIFT MUTATION; GENETIC MARKERS; GROUP IV PHOSPHOLIPASES A2; HOMOZYGOTE; HUMANS; INTESTINAL OBSTRUCTION; MALE; PEPTIC ULCER; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SIBLINGS;

EID: 84889639466     PISSN: 00175749     EISSN: 14683288     Source Type: Journal    
DOI: 10.1136/gutjnl-2012-303581     Document Type: Article

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