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 case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.

Platelets - 1 Aug 2008

Vettore Silvia, Scandellari Raffaella, Scapin Margherita, Lombardi Anna Maria, Duner Elena, Randi Maria Luigia, Fabris Fabrizio

Abstract excerpt

More than 20 DNA mutations with different inheritance pattern have been described in patients with Bernard-Soulier Syndrome (BSS), leading to abnormal or absent synthesis and/or expression of GPIbalpha. Clinical phenotype shows considerable variation between individuals, such as bleeding, platelet count and the percentage of large platelets. We describe in a BSS patient the first case of homozygous four bases...

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 Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Membrane Glycoproteins

Share to Platelet Aggregation

Share to Platelet Glycoprotein GPIb-IX Complex

Share to Sequence Deletion

Share to Thrombocytopenia

Source

Identifiers

PMID: 18791947
DOI: 10.1080/09537100801949976

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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 case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding.PMID 18791947Read ↗

A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome.Semantic proximity Read ↗

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

Compound heterozygosity of the GPIbalpha gene associated with Bernard-Soulier syndrome.Semantic proximity Read ↗

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

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

A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.Semantic proximity Read ↗

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

Genetic abnormalities of Bernard-Soulier syndrome.Semantic proximity Read ↗

A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.Semantic proximity Read ↗

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

A large Swiss family with Bernard-Soulier syndrome - Correlation phenotype and genotype.Semantic proximity Read ↗

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

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