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 rare case of Glanzmann's thrombasthenia and factor VII deficiency due to a combination of pathogenic and non-pathogenic gene variants.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2020

Deshpande Rutuja, Shanbhag Sharda, Jadli Anshul, Shetty Shrimati

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Factor VII Deficiency
Share to Factor VIIa
Share to Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Polymorphism, Single Nucleotide

Share to Promoter Regions, Genetic

Share to Thrombasthenia

Source

Identifiers

PMID: 31777146
DOI: 10.1111/hae.13898

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

A rare case of Glanzmann's thrombasthenia and factor VII deficiency due to a combination of pathogenic and non-pathogenic gene variants.PMID 31777146Read ↗

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations.Semantic proximity Read ↗

Hematologically important mutations: Glanzmann thrombasthenia.Semantic proximity Read ↗

Novel variants for Glanzmann thrombasthenia manifesting with purpura at birth.Semantic proximity Read ↗

Identification of three novel pathogenic ITGA2B and one novel pathogenic ITGB3 mutations in patients with hereditary Glanzmann's thrombasthenia living in Eastern Turkey.Semantic proximity Read ↗

Biochemical and molecular basis of Glanzmann's thrombasthenia.Semantic proximity Read ↗

Molecular characterization of Glanzmann's thrombasthenia in Iran: identification of three novel mutations.Semantic proximity Read ↗

[Molecular analysis of gene mutations in eight patients with Glanzmann's thrombasthenia].Semantic proximity Read ↗

[Analysis of Clinical Features and Gene Mutation in Children with Hereditary Coagulation Factor Deficiency].Semantic proximity Read ↗

Twins With an Identical Novel Mutation in ITGB3: A Case Report of Glanzmann Thrombasthenia-like Syndrome.Semantic proximity Read ↗

Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in beta3 integrin.Semantic proximity Read ↗

A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia.Semantic proximity Read ↗

Combined congenital dysfibrinogenemia and factor VII deficiency from mutations in the FGB and F7 genes.Semantic proximity Read ↗

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