A novel mutation in the β-spectrin gene causes the activation of a cryptic 5′-splice site and the creation of a de novo 3′-splice site

The analysis of genes involved in hereditary spherocytosis, by next-generation sequencing in two patients with clinical diagnosis of the disease, showed the presence of the c.1795+1G>A mutation in the SPTB gene. cDNA amplification then revealed the occurrence of a consequent aberrant mRNA isoform...

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Detalles Bibliográficos
Autores principales: Salas, Pilar Carrasco, Rosales, José Miguel Lezana, Milla, Carmen Palma, Montiel, Javier López, Siles, Juan López
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785562/
https://www.ncbi.nlm.nih.gov/pubmed/27081538
http://dx.doi.org/10.1038/hgv.2015.29

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