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Article

Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (ATG>ATC or HBA2: c.3G>C).

Hemoglobin - 1 Jan 2000

Lei Ya-Li, Sui Hong, Liu Yu-Juan, Pan Jun-Jun, Liu Yan-Hui, Lou Ji-Wu

Abstract excerpt

Although mutations causing α-thalassemia (α-thal) are mainly larger deletions involving one or both of the duplicated α-globin genes, point mutations are not rare. We have identified a novel mutation of the translation initiation codon of the α2-globin gene with DNA sequencing and allele-specific multiplex ligation-dependent probe amplification (MLPA) in a Chinese family. RNA analysis was performed with reverse...

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Identifiers

PMID: 31690131
DOI: 10.1080/03630269.2019.1686012

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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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