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Article

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

Journal of thrombosis and haemostasis : JTH - 1 Jan 2008

Kokame K, Aoyama Y, Matsumoto M, Fujimura Y, Miyata T

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Source

Identifiers

PMID: 17988227
DOI: 10.1111/j.1538-7836.2007.02828.x

Genes

ADAMTS13

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome.PMID 17988227Read ↗

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

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

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

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

Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.Semantic proximity Read ↗

ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome.Semantic proximity Read ↗

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

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

Mutation Spectrum of ADAMTS13 Gene in Patients with Upshaw-Schulman Syndrome (USS) in Russia.Semantic proximity Read ↗

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