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- 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
Kim, Benjamin; Hing, Zachary A.; Wu, Andrew; Schiller, Tal; Struble, Evi B.; Liuwantara, David; Kempert, Pamela H.; Broxham, Eric J.; Edwards, Nathan C.; Marder, Victor J.; Simhadri, Vijaya L.; Sauna, Zuben E.; Howard, Tom E.; Kimchi‐Sarfaty, Chava
- Abstract
The article presents a case study of two Salvadoran children with congenital thrombotic thrombocytopenic purpura (cTTP) and their asymptomatic, non-consanguineous parents. Topics include sequencing of the family's haplotypes for the ADAMTS13 protein, known as von Willebrand factor-cleaving protease (VWF-CPase), single nucleotide variations (SNVs) found in the same, and their messenger RNA (mRNA) levels. Absence of VWF-CPase activity in the children after kinetic analysis is discussed.
- Subjects
THROMBOTIC thrombocytopenic purpura; HAPLOTYPES; NUCLEOTIDE sequence; SINGLE nucleotide polymorphisms; MESSENGER RNA; PROTEOLYTIC enzyme genetics; PROTEOLYTIC enzyme kinetics; GENETICS
- Publication
British Journal of Haematology, 2014, Vol 165, Issue 1, p154
- ISSN
0007-1048
- Publication type
Article
- DOI
10.1111/bjh.12713