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Article

Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura.

British journal of haematology - 1 Mar 2013

Hing Zachary A, Schiller Tal, Wu Andrew, Hamasaki-Katagiri Nobuko, Struble Evi Budo, Russek-Cohen Estelle, Kimchi-Sarfaty Chava

Abstract excerpt

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare, recessively inherited genetic disorder with varying clinical presentation that is caused by ADAMTS13 mutations. Several studies have found limited associations between ADAMTS13 mutations and cTTP phenotype. The use of in silico tools that examine multiple mutation characteristics may better predict phenotype. We analysed 118 ADAMTS13 mutations found...

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Identifiers

PMID: 23346910
DOI: 10.1111/bjh.12214

Genes

ADAMTS13

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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