Article

Hb Yoshkar-Ola [β141(H19)Leu—Pro (CTG>CCG); HBB: c.425T>C]: a new hyper unstable abnormal hemoglobin variant found in a Russian family.

2025-04-26

Abstract excerpt

We report a new hyper unstable abnormal hemoglobin variant found in a Russian family. NGS revealed a new, previously unreported genetic variant in the 3’ exon of the β-globin gene [β141(H19)Leu-Pro (CTG>CCG); HBB: c.425T>C]. This variant was confirmed by Sanger sequencing in the patient and was not found in his parents. Capillary electrophoresis (CE) and reversed-phase high-performance liquid chromatography (RP-HP...

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Literature Corpus work: 2ad6c543-600f-5f66-8c2e-a3ed72815c44
DOI: 10.22541/au.174566721.13618298/v1

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