α-Thalassemia Associated with Hb Instability: A Tale of Two Features. The Case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro.

We identified two new variants in the third exon of the α-globin gene in families from southern Italy: the Hb Rogliano, α1 cod108 ACC>AAC or α1[α108(G15)Thr→Asn] and the Hb Policoro, α2 cod124 TCC>CCC or α2[α124(H7)Ser→Pro]. The carriers showed mild α-thalassemia phenotype and abnormal hemoglo...

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Detalles Bibliográficos
Autores principales: Bisconte, Maria Grazia, Caldora, Mercedes, Musollino, Gennaro, Cardiero, Giovanna, Flagiello, Angela, La Porta, Gaetana, Lagona, Laura, Prezioso, Romeo, Qualtieri, Gabriele, Gaudiano, Carlo, Medulla, Emilia, Merlino, Antonello, Pucci, Piero, Lacerra, Giuseppina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4346585/
https://www.ncbi.nlm.nih.gov/pubmed/25730315
http://dx.doi.org/10.1371/journal.pone.0115738

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4346585/
https://www.ncbi.nlm.nih.gov/pubmed/25730315
http://dx.doi.org/10.1371/journal.pone.0115738

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