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Article

Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.

PloS one - 1 Jan 2020

Barbanera Ylenia, Arcioni Francesco, Lancioni Hovirag, La Starza Roberta, Cardinali Irene, Matteucci Caterina, Nofrini Valeria, Roetto Antonella, Piga Antonio, Grammatico Paola, Caniglia Maurizio, Mecucci Cristina, Gorello Paolo

Abstract excerpt

The hemoglobin disorders are the most common single gene disorders in the world. Previous studies have suggested that they are deeply geographically structured and a variety of genetic determinants influences different clinical phenotypes between patients inheriting identical β-globin gene mutations. In order to get new insights into the heterogeneity of hemoglobin disorders, we investigated the molecular...

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Identifiers

PMID: 33091040
DOI: 10.1371/journal.pone.0240632
PMCID: PMC7581000

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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