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mRNA Analysis of Frameshift Mutations with Stop Codon in the Last Exon: The Case of Hemoglobins Campania [α1 cod95 (−C)] and Sciacca [α1 cod109 (−C)]

An insertion or deletion of a nucleotide (nt) in the penultimate or the last exon can result in a frameshift and premature termination codon (PTC), giving rise to an unstable protein variant, showing a dominant phenotype. We described two α-globin mutants created by the deletion of a nucleotide in t...

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Detalles Bibliográficos
Autores principales: Cardiero, Giovanna, Musollino, Gennaro, Prezioso, Romeo, Lacerra, Giuseppina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8533187/
https://www.ncbi.nlm.nih.gov/pubmed/34680508
http://dx.doi.org/10.3390/biomedicines9101390