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

scientific article published on 17 May 2013

De novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1016/J.JACI.2013.04.006
P698PubMed publication ID23688413
P5875ResearchGate publication ID236922731

P50authorFrancesco SessaQ42372945
Maurizio MargaglioneQ42638173
Loreto GesualdoQ53073703
Chiara DivellaQ58146584
P2093author name stringVincenzo Montinaro
Valeria Bafunno
Giuseppe Castellano
Giovanni Luca Tiscia
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectpatientQ181600
homozygosityQ114049690
P304page(s)748-750.e3
P577publication date2013-05-17
P1433published inThe Journal of Allergy and Clinical ImmunologyQ7743550
P1476titleDe novo homozygous mutation of the C1 inhibitor gene in a patient with hereditary angioedema
P478volume132

Reverse relations

cites work (P2860)
Q38817627Angioedema Phenotypes: Disease Expression and Classification.
Q27009012Classification, diagnosis, and approach to treatment for angioedema: consensus report from the Hereditary Angioedema International Working Group
Q43697611Endothelial-to-mesenchymal transition and renal fibrosis in ischaemia/reperfusion injury are mediated by complement anaphylatoxins and Akt pathway
Q41072058Fatal laryngeal angioedema: a case report and a workup of angioedema in a forensic setting
Q38818135Genetics of Hereditary Angioedema Revisited
Q40988824Homozygosity for a factor XII mutation in one female and one male patient with hereditary angio-oedema.
Q64107494Identification and Mapping of a 2,009-bp DNA Deletion in of a Hereditary Angioedema Patient
Q48223638Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight
Q62273446Pathophysiology of Hereditary Angioedema
Q90050712Plasminflammation-An Emerging Pathway to Bradykinin Production

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