Mutational spectrum of the C1 inhibitor gene in a cohort of italian patients with hereditary angioedema: Description of nine novel mutations

Annals of Human Genetics

Volumn 78, Issue 2, 2014, Pages 73-82

  Bafunno, Valeria ^a   Bova, Maria ^b   Loffredo, Stefania ^b   Divella, Chiara ^c   Petraroli, Angelica ^b   Marone, Gianni ^b   Montinaro, Vincenzo ^c   Margaglione, Maurizio ^a   Triggiani, Massimo ^d  

^a UNIVERSITY OF FOGGIA   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c UNIVERSITY OF BARI   (Italy)

^d UNIVERSITY OF SALERNO   (Italy)

Author keywords

C1 inhibitor deficiency; Genotype phenotype correlations; Hereditary angioedema; Novel mutations

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR;

ADOLESCENT; ADULT; AGED; ANGIONEUROTIC EDEMA; ARTICLE; CHILD; CLINICAL FEATURE; DNA SEQUENCE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

C1 INHIBITOR DEFICIENCY; GENOTYPE-PHENOTYPE CORRELATIONS; HEREDITARY ANGIOEDEMA; NOVEL MUTATIONS;

ADOLESCENT; ADULT; AGED; ANGIOEDEMAS, HEREDITARY; CHILD; COHORT STUDIES; COMPLEMENT C1 INACTIVATOR PROTEINS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; SEQUENCE DELETION; YOUNG ADULT;

EID: 84894364029     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12052     Document Type: Article

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