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Article

A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom.

Journal of thrombosis and haemostasis : JTH - 1 Sept 2012

Camilleri R S, Scully M, Thomas M, Mackie I J, Liesner R, Chen W J, Manns K, Machin S J

Abstract excerpt

BACKGROUND: ADAMTS13 mutations play a role in thrombotic thrombocytopenic purpura (TTP) pathogenesis. OBJECTIVES: To establish a phenotype-genotype correlation in a cohort of congenital TTP patients. PATIENTS/METHODS: Clinical history and ADAMTS13 activity, antigen and anti-ADAMTS13 antibody assays were used to diagnose congenital TTP, and DNA sequencing and in vitro expression were performed to identify the...

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Source

Identifiers

PMID: 22783805
DOI: 10.1111/j.1538-7836.2012.04852.x

Genes

ADAMTS13

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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