Article
Novel frameshift mutation in PURA gene causes severe encephalopathy of unclear cause.
Molecular genetics & genomic medicine - 1 May 2021
Spangenberg Lucía, Guecaimburú Rosario, Tapié Alejandra, Vivas Susana, Rodríguez Soledad, Graña Martín, Naya Hugo, Raggio Víctor
Abstract excerpt
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 low frequency, they present several difficulties for patients, from the delay in the diagnosis to the lack of...
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