Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency

Allergy: European Journal of Allergy and Clinical Immunology

Volumn 66, Issue 1, 2011, Pages 76-84

  Bygum, A ^a   Fagerberg, C R ^b   Ponard, D ^c   Monnier, N ^c   Lunardi, J ^c   Drouet, C ^c,d  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b LILLEBAELT HOSPITAL   (Denmark)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d LABORATOIRE TIMC IMAG   (France)

Author keywords

C1 inhibitor deficiency; hereditary angioedema; SERPING1 mutation; severity score

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; COMPLEMENT COMPONENT C4;

ADOLESCENT; ADULT; AGED; ANGIONEUROTIC EDEMA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ASSESSMENT; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DENMARK; DISEASE EXACERBATION; DISEASE SEVERITY; EXON; FAMILY HISTORY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE LOCATION; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HEREDITY; HUMAN; IMMUNOPHENOTYPING; INTRON; LARYNX EDEMA; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SCORING SYSTEM; SEQUENCE ANALYSIS; SERPING1 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN EDEMA;

ADOLESCENT; ADULT; AGED; ANGIOEDEMAS, HEREDITARY; CHILD; CHILD, PRESCHOOL; COMPLEMENT C1 INHIBITOR PROTEIN; DENMARK; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 78649982633     PISSN: 01054538     EISSN: 13989995     Source Type: Journal    
DOI: 10.1111/j.1398-9995.2010.02456.x     Document Type: Article

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