De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema

Journal of Allergy and Clinical Immunology

Volumn 132, Issue 3, 2013, Pages

  Bafunno, Valeria ^a   Divella, Chiara ^b   Sessa, Francesco ^a   Tiscia, Giovanni Luca ^c   Castellano, Giuseppe ^b   Gesualdo, Loreto ^b   Margaglione, Maurizio ^a   Montinaro, Vincenzo ^b  

^a UNIVERSITY OF FOGGIA   (Italy)

^b UNIVERSITY OF BARI   (Italy)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C1S INHIBITOR; GENOMIC DNA; ICATIBANT; PLASMA PROTEIN; TRANSFERRIN RECEPTOR;

ADULT; ALU SEQUENCE; ANGIONEUROTIC EDEMA; CASE REPORT; FEMALE; GENE CONVERSION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; INDEL MUTATION; LETTER; PARENT; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING;

EID: 84883249717     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.04.006     Document Type: Article

References (13)

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