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