Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

Copyright © 2013 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 150(2014), 2 vom: 09. Feb., Seite 143-8
1. Verfasser: Colobran, Roger (VerfasserIn)
Weitere Verfasser: Lois, Sergio, de la Cruz, Xavier, Pujol-Borrell, Ricardo, Hernández-González, Manuel, Guilarte, Mar
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2014
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't C1-inhibitor; Hereditary angioedema; Immunodeficiency; Mutation; SERPING1; Splicing Complement C1 Inactivator Proteins mehr... Complement C1 Inhibitor Protein RNA Splice Sites RNA, Messenger SERPING1 protein, human
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