Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients

Human Mutation

Volumn 17, Issue 1, 2001, Pages 61-70

  Duponchel, Christiane ^a   Rocco, Christiana Di ^a   Cicardi, Marco ^b   Tosi, Mario ^c,d  

^a INSTITUT PASTEUR   (France)

^b FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^c UNIVERSITÉ DE ROUEN   (France)

^d INSERM   (France)

Author keywords

Alu mediated deletion; Angioedema; C1 inhibitor; C1NH; Chimeric primers; Clinical molecular genetics; Fluorescent multiplex PCR; HAE; Hereditary; Long range PCR; Quantitative PCR

Indexed keywords

BRCA1 PROTEIN; COMPLEMENT COMPONENT C1; COMPLEMENT INHIBITOR; DNA; NUCLEOTIDE; PRIMER DNA;

ALU SEQUENCE; ANGIONEUROTIC EDEMA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; EXON; FLUORESCENCE; GENE AMPLIFICATION; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMAN; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ANGIONEUROTIC EDEMA; COMPLEMENT C1 INACTIVATOR PROTEINS; COMPLEMENT C1 INHIBITOR PROTEIN; DNA MUTATIONAL ANALYSIS; EXONS; FLUORESCENT DYES; GENE DUPLICATION; GENES, BRCA1; HUMANS; POLYMERASE CHAIN REACTION; SEQUENCE DELETION;

EID: 0035162630     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(2001)17:1<61::AID-HUMU7>3.0.CO;2-9     Document Type: Article

References (15)

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15. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis