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Article

Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients.

Blood cells, molecules & diseases - 1 Jun 2015

Nagar Rachana, Sinha Sujata, Raman Rajiva

Abstract excerpt

Heterogeneity in thalassemia is due to various modifying factors viz. coinheritance of α-gene defects, abnormal hemoglobin, XmnI polymorphism, variation in repeat sequences present in LCR, and silencer region of the gene. The present work on populations from eastern regions of India was undertaken to study the genetic profile of heterogeneity in thalassemia patients. Mutation analysis in 126 index families...

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Identifiers

PMID: 25976460
DOI: 10.1016/j.bcmd.2015.03.005

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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.

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