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

Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.

Journal of pediatric hematology/oncology - 1 Mar 2018

Vucak Jerko, Turudic Daniel, Milosevic Danko, Bilic Marko, Salek Zrinko, Rincic Martina, Bilic Ernest

Abstract excerpt

An analysis of genotype-phenotype correlation was performed for 14 patients with beta-thalassemia who had been registered in Referral Centre for hematology and oncology of the University Hospital Centre, Zagreb, Croatia. HBB gene mutations were determined using a gene-specific Q5 High-Fidelity PCR analysis with direct DNA sequencing of amplified transcripts. Mahidol score index used for classification of...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to beta-Thalassemia

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

Share to Child, Preschool

Share to Genetic Association Studies

Share to Infant

Share to Mutation

Share to Young Adult

Source

Identifiers

PMID: 29240028
DOI: 10.1097/MPH.0000000000001039

Genes

HBB

Variants

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

Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.PMID 29240028Read ↗

IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.Semantic proximity Read ↗

The Relevance of β-Thalassemia Heterozygosity in Pediatric Clinical Practice: Croatian ExperienceSemantic proximity Read ↗

Comprehensive spectrum of the β-Thalassemia mutations in Khuzestan, southwest Iran.Semantic proximity Read ↗

Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East.Semantic proximity Read ↗

Spectrum of HBB Gene Mutations and Genotype‒Phenotype Correlations in Transfusion Dependent β-thalassemia Patients in Odisha, IndiaSemantic proximity Read ↗

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.Semantic proximity Read ↗

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.Semantic proximity Read ↗

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population.Semantic proximity Read ↗

Correlation of beta-thalassemia mutations with alpha-thalassemia: an experience of the southwestern region of Iran.Semantic proximity Read ↗

Genotype-Phenotype Correlation of Β-Globin Mutations and Hematological Parameters in Iraqi Β-Thalassemia Patients.Semantic proximity Read ↗

The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters.Semantic proximity Read ↗

Mutational and Functional Impact of β-globin Gene Mutation in Indonesian Thalassemia Patients using in Silico MethodSemantic proximity Read ↗

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