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Plasminogen gene mutation with normal C1 inhibitor hereditary angioedema: Three additional French families. 2018

Aude Belbézier, and Gaelle Hardy, and Raphael Marlu, and Federica Defendi, and Chantal Dumestre Perard, and Isabelle Boccon-Gibod, and David Launay, and Laurence Bouillet
Department of Internal Medicine, Grenoble University Hospital, Grenoble, France.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010958 Plasminogen Precursor of plasmin (FIBRINOLYSIN). It is a single-chain beta-globulin of molecular weight 80-90,000 found mostly in association with fibrinogen in plasma; plasminogen activators change it to fibrinolysin. It is used in wound debriding and has been investigated as a thrombolytic agent. Profibrinolysin,Glu-Plasminogen,Glutamic Acid 1-Plasminogen,Glutamyl Plasminogen,1-Plasminogen, Glutamic Acid,Glu Plasminogen,Glutamic Acid 1 Plasminogen,Plasminogen, Glutamyl
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D050718 Complement C1 Inhibitor Protein An endogenous 105-kDa plasma glycoprotein produced primarily by the LIVER and MONOCYTES. It inhibits a broad spectrum of proteases, including the COMPLEMENT C1R and the COMPLEMENT C1S proteases of the CLASSICAL COMPLEMENT PATHWAY, and the MANNOSE-BINDING PROTEIN-ASSOCIATED SERINE PROTEASES. C1-INH-deficient individuals suffer from HEREDITARY ANGIOEDEMA TYPES I AND II. C1 Esterase Inhibitor,C1-INH Protein,C1-Inhibitor Protein,Complement C1-Inhibitor Protein,Plasma Protease C1 Inhibitor,SERPING1,Serpin Family G Member 1,Serpin G1,C1 INH Protein,C1 Inhibitor Protein,Esterase Inhibitor, C1
D054179 Angioedemas, Hereditary Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT. Angioedema, Hereditary,Angioneurotic Edema, Hereditary,C1 Esterase Inhibitor Deficiency,C1 Inhibitor Deficiency,Hereditary Angioedema,Hereditary Angioedemas,Hereditary Angioneurotic Edema,Angioneurotic Edemas, Hereditary,Edema, Hereditary Angioneurotic,Edemas, Hereditary Angioneurotic,Hereditary Angioneurotic Edemas

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