title: Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family.
authors.affiliation: Division of Hematology/Oncology, Department of Medicine, University of California San Francisco School of Medicine, San Francisco, CA, USA.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Kim
authors.forename: Zachary A
authors.initials: ZA
authors.lastname: Hing
authors.forename: Andrew
authors.initials: A
authors.lastname: Wu
authors.forename: Tal
authors.initials: T
authors.lastname: Schiller
authors.forename: Evi B
authors.initials: EB
authors.lastname: Struble
authors.forename: David
authors.initials: D
authors.lastname: Liuwantara
authors.forename: Pamela H
authors.initials: PH
authors.lastname: Kempert
authors.forename: Eric J
authors.initials: EJ
authors.lastname: Broxham
authors.forename: Nathan C
authors.initials: NC
authors.lastname: Edwards
authors.forename: Victor J
authors.initials: VJ
authors.lastname: Marder
authors.forename: Vijaya L
authors.initials: VL
authors.lastname: Simhadri
authors.forename: Zuben E
authors.initials: ZE
authors.lastname: Sauna
authors.forename: Tom E
authors.initials: TE
authors.lastname: Howard
authors.forename: Chava
authors.initials: C
authors.lastname: Kimchi-Sarfaty
mesh_terms: D051722:ADAM Proteins / Q000235:genetics* / Q000378:metabolism*; D000071120:ADAMTS13 Protein; D002648:Child; D002675:Child, Preschool; D005260:Female; D005786:Gene Expression Regulation; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism*; D014841:von Willebrand Factor / Q000235:genetics* / Q000378:metabolism*
chemical_list: D014841:von Willebrand Factor; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: ADAMTS13; congenital thrombotic thrombocytopenic purpura; haplotypes; phenotypes; quantitative trait nucleotides