Frequent de novo mutations and exon deletions in the Clinhibitor gene of patients with angioedema

Journal of Allergy and Clinical Immunology

Volumn 106, Issue 6, 2000, Pages 1147-1154

  Pappalardo, Emanuela ^a,b   Cicardi, Marco ^b   Duponchel, Christiane ^a   Carugati, Anna ^b   Choquet, Sylvain ^a   Tosi, Mario ^a,b  

^a INSERM   (France)

^b Institut Pasteur   (Italy)

Author keywords

Alu repeats; Angioedema; Complement; De novo deletions; De novo mutations; DNA mutational analysis; Epidemiology; Fluorescence assisted mismatch analysis; Gene deletions; Genetic variation; Genetics

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR;

ANGIONEUROTIC EDEMA; ARTICLE; DNA DETERMINATION; EXON; GENE DELETION; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; GENETIC EPIDEMIOLOGY; HUMAN; MAJOR CLINICAL STUDY; POINT MUTATION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

EID: 0034541410     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1067/mai.2000.110471     Document Type: Article

References (23)

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