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

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Détails bibliographiques
Publié dans:Clinical immunology (Orlando, Fla.). - 1999. - 150(2014), 2 vom: 09. Feb., Seite 143-8
Auteur principal: Colobran, Roger (Auteur)
Autres auteurs: Lois, Sergio, de la Cruz, Xavier, Pujol-Borrell, Ricardo, Hernández-González, Manuel, Guilarte, Mar
Format: Article en ligne
Langue:English
Publié: 2014
Accès à la collection:Clinical immunology (Orlando, Fla.)
Sujets:Case Reports Journal Article Research Support, Non-U.S. Gov't C1-inhibitor; Hereditary angioedema; Immunodeficiency; Mutation; SERPING1; Splicing Complement C1 Inactivator Proteins plus... Complement C1 Inhibitor Protein RNA Splice Sites RNA, Messenger SERPING1 protein, human
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