Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome

21 Oct 2003

Abstract excerpt

We report here 7 new mutations in the ADAMTS13 gene responsible for Upshaw-Schulman syndrome (USS), a catastrophic phenotype of congenital thrombotic thrombocytopenic purpura, by analyzing 5 Japanese families. There were 3 mutations that occurred at exon-intron boundaries: 414+1G>A at intron 4, 686+1G>A at intron 6, and 1244+2T>G at intron 10 (numbered from the A of the initiation Met codon), and we confirmed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Complement system in diseases
Share to Mechanical Circulatory Support Devices
Share to Platelet Disorders and Treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 14563640
DOI: 10.1182/blood-2003-06-1796

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndromePMID 14563640Read ↗

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

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

An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review.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 ↗

Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

ADAMTS13 activity and genetic mutations in Japan.Semantic proximity Read ↗

Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.Semantic proximity Read ↗

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

Severe Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw-Schulman Syndrome.Semantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.