Effect of Mutations on mRNA and Globin Stability: The Cases of Hb Bernalda/Groene Hart and Hb Southern Italy

We identified two unstable variants in the third exon of α-globin genes: Hb Bernalda/Groene Hart (HBA1:c.358C>T), and Hb Caserta (HBA2:c.79G>A) in cis to Hb Sun Prairie (HBA2:c.391G>C), also named Hb Southern Italy. These mutations occurred in the H helix of the α-globin that is involved in...

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Bibliographic Details
Published in:Genes (Basel)
Main Authors: Cardiero, Giovanna, Musollino, Gennaro, Friscia, Maria Grazia, Testa, Rosario, Virruso, Lucrezia, Di Girgenti, Caterina, Caldora, Mercedes, Colella Bisogno, Rosario, Gaudiano, Carlo, Manco, Giuseppe, Lacerra, Giuseppina
Format: Artigo
Language:Inglês
Published: MDPI 2020
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7466077/
https://ncbi.nlm.nih.gov/pubmed/32751969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11080870
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