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Article

Functional analysis of three new alpha-thalassemia deletions involving MCS-R2 reveals the presence of an additional enhancer element in the 5' boundary region.

PLoS genetics - 1 May 2023

Capasso Serena, Cardiero Giovanna, Musollino Gennaro, Prezioso Romeo, Testa Rosario, Dembech Sabrina, Piluso Giulio, Nigro Vincenzo, Digilio F Anna, Lacerra Giuseppina

Abstract excerpt

We report three novel deletions involving the Multispecies Conserved Sequences (MCS) R2, also known as the Major Regulative Element (MRE), in patients showing the α-thalassemia phenotype. The three new rearrangements showed peculiar positions of the breakpoints. 1) The (αα)ES is a telomeric 110 kb deletion ending inside the MCS-R3 element. 2) The (αα)FG, 984 bp-long, ends 51 bp upstream to MCS-R2; both are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37216374
DOI: 10.1371/journal.pgen.1010727
PMCID: PMC10202303

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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