Vibratory urticaria associated with a missense variant in ADGRE2

New England Journal of Medicine

Volumn 374, Issue 7, 2016, Pages 656-663

  Boyden, Steven E ^a   Desai, Avanti ^b   Cruse, Glenn ^b   Young, Michael L ^d   Bolan, Hyejeong C ^b   Scott, Linda M ^b   Robin Eisch, A ^b   Daniel Long, R ^b   Lee, Chyi Chia R ^c   Satorius, Colleen L ^a   Pakstis, Andrew J ^e   Olivera, Ana ^b   Mullikin, James C ^a   Chouery, Eliane ^f   Mégarbané, André ^h   Medlej Hashim, Myrna ^g   Kidd, Kenneth K ^e   Kastner, Daniel L ^a   Metcalfe, Dean D ^b   Komarow, Hirsh D ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d FREDERICK NATIONAL LABORATORY FOR CANCER RESEARCH   (United States)

^e YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f SAINT JOSEPH UNIVERSITY   (Lebanon)

^g Department of Civil Engineering   (United States)

^h Institute Jérôme Lejeune   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADGRE2 RECEPTOR; CYSTEINE; G PROTEIN COUPLED RECEPTOR; HISTAMINE; IMMUNOGLOBULIN E; TYROSINE; UNCLASSIFIED DRUG; EMR2 PROTEIN, HUMAN;

ADGRE2 GENE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HISTAMINE BLOOD LEVEL; HUMAN; MALE; MAST CELL DEGRANULATION; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CLEAVAGE; PROTEIN INTERACTION; PROTEIN SUBUNIT; URTICARIA; VIBRATORY URTICARIA; ADVERSE EFFECTS; BIOPSY; BLOOD; DEGRANULATION; GENETICS; LEBANON; MAST CELL; METABOLISM; MIDDLE AGED; PATHOLOGY; PEDIGREE; PHYSIOLOGY; SKIN; VIBRATION;

BIOPSY; CELL DEGRANULATION; FEMALE; HISTAMINE; HUMANS; LEBANON; MALE; MAST CELLS; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, G-PROTEIN-COUPLED; SKIN; URTICARIA; VIBRATION;

EID: 84959017087     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1500611     Document Type: Article

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