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

[Mutation screening and prenatal diagnosis of a pedigree with Glanzmann's thrombasthenia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2011

Li Wen, Liu Jin-lei, Li Lu-yun, Lu Guang-xiu

Abstract excerpt

OBJECTIVE: Mutation screening was performed in a pedigree of Glanzmann's thrombasthenia (GT) and prenatal diagnosis was performed. METHODS: In this study, reverse transcription-PCR-sequencing and PCR-sequencing, as well as restriction fragment length polymorphism(RFLP) and A/T-cloned-sequencing, were used to screen the ITGA2B and ITGB3 mutation in a pedigree with Glanzmann's thrombasthenia in the RNA and DNA...

Read the complete abstract on PubMed

Topics

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

Share to Gene Order
Share to Genetic Testing

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

Share to Pedigree

Share to Platelet Glycoprotein GPIIb-IIIa Complex

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Protein Conformation

Share to Thrombasthenia

Source

Identifiers

PMID: 21644217
DOI: 10.3760/cma.j.issn.1003-9406.2011.03.003

Genes

ITGB3

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

[Mutation screening and prenatal diagnosis of a pedigree with Glanzmann's thrombasthenia].PMID 21644217Read ↗

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

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

[Pedigree Analysis and Molecular Mechanism Study of Hereditary Glanzmann Thrombasthenia Caused by Compound Heterozygous Mutation of the ITGA2B Gene].Semantic proximity Read ↗

SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.Semantic proximity Read ↗

Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.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 ↗

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

[Analysis of clinical features and genotype in three Chinese pedigrees with Glanzmann thrombasthenia].Semantic proximity Read ↗

Novel mutations of integrin αIIb and β3 genes in Turkish children with Glanzmann's thrombasthenia.Semantic proximity Read ↗

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.Semantic proximity Read ↗

Glanzmann Thrombasthenia due to ITGA2B mutation: report of a China familySemantic proximity Read ↗

[Congenital Fibrinogen Deficiency Caused by Novel FGG Gene Mutation].Semantic proximity Read ↗

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