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Article

Breakpoint characterization of a rare alpha0 -thalassemia deletion using targeted locus amplification on genomic DNA.

International journal of laboratory hematology - 1 Dec 2021

Hottentot Quint P, de Meijer Emile, Buermans Henk P J, White Stefan J, Harteveld Cornelis L

Abstract excerpt

INTRODUCTION: The high-sequence homology of the α-globin-gene cluster is responsible for microhomology-mediated recombination events during meiosis, resulting in a high density of deletion breakpoints within a 10 kb region. Commonly used deletion detection methods, such as multiplex ligation-dependent probe amplification (MLPA) and Southern blot, cannot exactly define the breakpoints. This typically requires...

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Identifiers

PMID: 34251753
DOI: 10.1111/ijlh.13651
PMCID: PMC9291876

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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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