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

Genetic abnormalities of Bernard-Soulier syndrome.

International journal of hematology - 1 Nov 2002

Kunishima Shinji, Kamiya Tadashi, Saito Hidehiko

Abstract excerpt

Bernard-Soulier Syndrome (BSS) is an autosomal recessive bleeding disorder due to quantitative or qualitative abnormalities in the glycoprotein (GP) Ib/IX/V complex, the platelet receptor for von Willebrand factor. BSS is characterized by giant platelets, thrombocytopenia, and prolonged bleeding time, and the hallmark of this disorder is the absence of ristocetin-induced platelet agglutination. In the last 10...

Read the complete abstract on PubMed

Topics

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

Share to Bernard-Soulier Syndrome
Share to Blood groups and transfusion
Share to Heparin-Induced Thrombocytopenia and Thrombosis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Platelet Disorders and Treatments

Share to Platelet Glycoprotein GPIb-IX Complex

Share to Protein Subunits

Source

Identifiers

PMID: 12463594
DOI: 10.1007/BF02982690

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic abnormalities of Bernard-Soulier syndrome.PMID 12463594Read ↗

Bernard-Soulier syndrome: an update.Semantic proximity Read ↗

Bernard–Soulier Syndrome: A Review of Epidemiology, Molecular Pathology, Clinical Features, Laboratory Diagnosis, and Therapeutic ManagementSemantic proximity Read ↗

Spectrum of the mutations in Bernard-Soulier syndrome.Semantic proximity Read ↗

Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy).Semantic proximity Read ↗

Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression.Semantic proximity Read ↗

Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.Semantic proximity Read ↗

Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review.Semantic proximity Read ↗

Molecular genetic diagnosis of Bernard-Soulier syndrome in Iranian patients: reporting three novel mutations.Semantic proximity Read ↗

Molecular basis of Bernard-Soulier syndrome in 27 patients from India.Semantic proximity Read ↗

A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia.Semantic proximity Read ↗

Bernard–Soulier syndrome due to the homozygous Asn‐45Ser mutation in GPIX: an unexpected, frequent finding in GermanySemantic proximity Read ↗

Biochemical and molecular basis of Bernard-Soulier syndrome: a review.Semantic proximity Read ↗

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