Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause

BACKGROUND: The etiology of many genetic diseases is challenging. This is especially true for developmental disorders of the central nervous system, since several genes can be involved. Many of such pathologies are considered rare diseases, since they affect less than 1 in 2000 people. Due to their...

Descripción completa

Detalles Bibliográficos
Autores principales: Spangenberg, Lucía, Guecaimburú, Rosario, Tapié, Alejandra, Vivas, Susana, Rodríguez, Soledad, Graña, Martín, Naya, Hugo, Raggio, Víctor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172205/
https://www.ncbi.nlm.nih.gov/pubmed/33750045
http://dx.doi.org/10.1002/mgg3.1622

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172205/
https://www.ncbi.nlm.nih.gov/pubmed/33750045
http://dx.doi.org/10.1002/mgg3.1622

Ejemplares similares