A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema

Clinical and Experimental Dermatology

Volumn 37, Issue 1, 2012, Pages 20-23

  Iwamoto, K ^a   Tanaka, A ^a   Kawai, M ^a   Ishii, K ^a   Mihara, S ^a   Hide, M ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; CTNND1 PROTEIN; D DIMER; GENOMIC DNA; LOC100287801 PROTEIN; MED19 PROTEIN; OLFACTORY RECEPTOR FAMILY OR1S2; OLFACTORY RECEPTOR FAMILY OR6Q1; OLFACTORY RECEPTOR FAMILY OR9I1; PROTEIN; SLC43A1 PROTEIN; TIMM10 PROTEIN; TRANEXAMIC ACID; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ADULT; ANGIONEUROTIC EDEMA; ARTICLE; BLOOD CLOTTING; CASE REPORT; CAUSAL ATTRIBUTION; CONTROLLED STUDY; DYSPNEA; EXON; FEMALE; GENE DELETION; GENE DOSAGE; GENE SEQUENCE; GENETIC ASSOCIATION; HUMAN; PRIORITY JOURNAL; SWELLING;

ADULT; ANGIOEDEMAS, HEREDITARY; ASIAN CONTINENTAL ANCESTRY GROUP; COMPLEMENT C1 INHIBITOR PROTEIN; EXONS; FEMALE; FIBRIN FIBRINOGEN DEGRADATION PRODUCTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 84355166726     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2011.04138.x     Document Type: Article

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