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Article

Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation.

Blood - 1 Jan 2006

Plaimauer Barbara, Fuhrmann Jakob, Mohr Gabriele, Wernhart Waltraud, Bruno Katharina, Ferrari Silvia, Konetschny Christian, Antoine Gerhard, Rieger Manfred, Scheiflinger Friedrich

Abstract excerpt

Sequence analysis of the ADAMTS13 locus of 2 patients with hereditary thrombotic thrombocytopenic purpura (TTP) revealed the homozygous presence of 4 single nucleotide polymorphisms (SNPs) (R7W, Q448E, P618A, A732V) and a rare missense mutation (R1336W). Analysis of the individual effect of any amino acid exchanges showed that several sequence variations can interact with each other, thereby altering the...

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Source

Identifiers

PMID: 16160007
DOI: 10.1182/blood-2005-06-2482

Genes

ADAMTS13

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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