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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...

Topics

Adolescent
Adult
Child
Child, Preschool
Croatia
Female
Genetic Association Studies
Humans
Infant
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

beta-Globins

beta-Thalassemia

Source

Identifiers

PMID: 29240028
DOI: 10.1097/MPH.0000000000001039

Genes

HBB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-29240028-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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