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

A common origin of the 4143insA ADAMTS13 mutation.

Thrombosis and haemostasis - 1 Jul 2006

Schneppenheim Reinhard, Kremer Hovinga Johanna A, Becker Tim, Budde Ulrich, Karpman Diana, Brockhaus Wolfgang, Hrachovinová Ingrid, Korczowski Bartosz, Oyen Florian, Rittich Simon, von Rosen Johannes, Tjønnfjord Geir E, Pimanda John E, Wienker Thomas F, Lämmle Bernhard

Abstract excerpt

Severely deficient activity of the von Willebrand Factor (VWF) cleaving metalloprotease, ADAMTS13, is associated with thrombotic thrombocytopenic purpura (TTP). The mutation spectrum ofADAMTS13 is rather heterogeneous, and numerous mutations spread across the gene have been described in association with congenital TTP. The 4143insA mutation is unusual with respect to its geographic concentration. Following the...

Read the complete abstract on PubMed

Topics

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

Share to ADAM Proteins
Share to ADAMTS13 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Europe

Share to Family Health

Share to Founder Effect

Share to Frameshift Mutation

Share to Haplotypes

Share to Purpura, Thrombotic Thrombocytopenic

Source

Identifiers

PMID: 16807643
DOI: 10.1160/TH05-12-0817

Genes

ADAMTS13
VWF

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A common origin of the 4143insA ADAMTS13 mutation.PMID 16807643Read ↗

High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence.Semantic proximity Read ↗

Genetics of thrombotic thrombocytopenic purpura: systematic review in immune and congenital thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017Semantic proximity Read ↗

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

Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).Semantic proximity Read ↗

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

A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.Semantic proximity Read ↗

Genetic defects leading to hereditary thrombotic thrombocytopenic purpura.Semantic proximity Read ↗

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

[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene].Semantic proximity Read ↗

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

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

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