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Article

Application of MLPA assay to characterize unsolved α-globin gene rearrangements.

Blood cells, molecules & diseases - 15 Feb 2011

Colosimo Alessia, Gatta Valentina, Guida Valentina, Leodori Eleonora, Foglietta Enrica, Rinaldi Silvana, Cappabianca Maria Pia, Amato Antonio, Stuppia Liborio, Dallapiccola Bruno

Abstract excerpt

α-thalassemia belongs to those inherited diseases in which large genomic deletions/duplications represent a significant proportion of causative mutations. Until recently, large α-globin gene cluster rearrangements have been mainly detected by gap-PCR and Southern blotting, methods that have significant drawbacks. We tested the recently developed multiplex ligation-dependent probe amplification (MLPA) assay for...

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PMID: 21190870
DOI: 10.1016/j.bcmd.2010.11.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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