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Article

Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).

Thrombosis and haemostasis - 1 Sept 2007

Hommais Antoine, Rayes Julie, Houllier Anne, Obert Bernadette, Legendre Paulette, Veyradier Agnes, Girma Jean-Pierre, Ribba Anne-Sophie

Abstract excerpt

ADAMTS13 mutations S203P, R268P, R507Q and A596V were previously identified in French patients with hereditary thrombotic thrombocytopenic purpura (TTP) (Upshaw-Schulman syndrome). Mutated recombinant (r) ADAMTS13 were transiently expressed in COS-7 cells and characterized in comparison with wild...

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Source

Identifiers

PMID: 17849048

Genes

ADAMTS13
VWF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17849048-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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