A novel splice site mutation in the SERPING1 gene leads to haploinsufficiency by complete degradation of the mutant allele mRNA in a case of familial hereditary angioedema.
Colobran, Roger; Pujol-Borrell, Ricardo; Hernández-González, Manuel; Guilarte, Mar.
J Clin Immunol
; 34(5): 521-3, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24760113
Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema.
New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
A Unique Case of Angioedema With Anti-C1 Inhibitor Antibodies and Normal C1 Inhibitor Levels.
Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.
Recurrent Angioedema: Occurrence, Features, and Concomitant Diseases in an Italian Single-Center Study.
Hereditary angio-oedema with C1 inhibitor deficiency: Characteristics and diagnostic delay of Czech patients from one centre.
Current update on cellular and molecular mechanisms of hereditary angioedema.
The dermatology view of hereditary angio-oedema: practical diagnostic and management considerations.
The burden of illness in patients with hereditary angioedema.
The Levels of the Lectin Pathway Serine Protease MASP-1 and Its Complex Formation with C1 Inhibitor Are Linked to the Severity of Hereditary Angioedema.