title: [Upshaw-Schulman syndrome. A case based on 3 genomic variants].
authors.affiliation: Unidad de Medicina Transfusional, Hospital General Universitario de Alicante, Alicante, España.
authors.forename: Pablo
authors.initials: P
authors.lastname: Manresa Manresa
authors.affiliation: Unidad de Medicina Transfusional, Hospital General Universitario de Alicante, Alicante, España.
authors.forename: Hector
authors.initials: H
authors.lastname: Sarmiento Palao
authors.affiliation: Unidad de Medicina Transfusional, Hospital General Universitario de Alicante, Alicante, España. Electronic address: hernandez.luima@gva.es.
authors.forename: Luis M
authors.initials: LM
authors.lastname: Hernández Mateo
mesh_terms: D000071120:ADAMTS13 Protein / Q000235:genetics*; D005819:Genetic Markers; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005819:Genetic Markers; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human