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Article

A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome.

Thrombosis and haemostasis - 1 Nov 2014

Pérez-Rodríguez Almudena, Batlle-López Ana, Blanco Rosa, Varela Ignacio, León Javier, Delgado M Dolores, Lourés Esther, Rodríguez-Trillo Angela, García-Rivero Aránzazu, Costa-Pinto Joana, Batlle Javier, López-Fernández María Fernanda

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Identifiers

PMID: 25057114
DOI: 10.1160/TH14-02-0116

Genes

ADAMTS13

Provenance

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Related research

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A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome.PMID 25057114Read ↗

Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome.Semantic proximity Read ↗

The homozygous p.C1024R- ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan.Semantic proximity Read ↗

Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations.Semantic proximity Read ↗

Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.Semantic proximity Read ↗

Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw–Schulman syndromeSemantic proximity Read ↗

ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw–Schulman SyndromeSemantic proximity Read ↗

GWA study for ADAMTS13 activity.Semantic proximity Read ↗

Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.Semantic proximity Read ↗

A new ADAMTS13 missense mutation (D1362V) in thrombotic thrombocytopenic purpura diagnosed during pregnancy.Semantic proximity Read ↗

Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review.Semantic proximity Read ↗

Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndromeSemantic proximity Read ↗

Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy.Semantic proximity Read ↗

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