title: A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome.
authors: Almudena
authors: A
authors: Pérez-Rodríguez
authors: Ana
authors: A
authors: Batlle-López
authors: Rosa
authors: R
authors: Blanco
authors: Ignacio
authors: I
authors: Varela
authors: Javier
authors: J
authors: León
authors: M Dolores
authors: MD
authors: Delgado
authors: Esther
authors: E
authors: Lourés
authors: Angela
authors: A
authors: Rodríguez-Trillo
authors: Aránzazu
authors: A
authors: García-Rivero
authors: Joana
authors: J
authors: Costa-Pinto
authors: Francisco Javier Batlle Fonrodona, MD, Servicio de Hematología y Hemoterapia, Complexo Hospitalario Universitario A Coruña, (Edificio Hospital Materno Infantil), Carretera del Pasaje s/n, 15006 - A Coruña, Spain, Tel.: +34 981 178000 Ext. 292113, Fax: +34 981 178392, E-mail: francisco.javier.batlle.fonrodona@sergas.es.
authors: Javier
authors: J
authors: Batlle
authors: María Fernanda
authors: MF
authors: López-Fernández
mesh_terms: D051722:ADAM Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D000071120:ADAMTS13 Protein; D018389:Codon, Nonsense; D003951:Diagnostic Errors; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D057809:HEK293 Cells; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D055550:Protein Stability; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000175:diagnosis; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion; D014162:Transfection
chemical_list: D018389:Codon, Nonsense; D011993:Recombinant Fusion Proteins; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human