Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy

Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3) missense mutations are related to the pathog...

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Detalles Bibliográficos
Autores principales: Musumeci, Antonino, Calì, Francesco, Scuderi, Carmela, Vinci, Mirella, Vitello, Girolamo Aurelio, Musumeci, Sebastiano Antonino, Chiavetta, Valeria, Federico, Concetta, Amore, Greta, Saccone, Salvatore, Di Rosa, Gabriella, Nicotera, Antonio Gennaro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496502/
https://www.ncbi.nlm.nih.gov/pubmed/36140376
http://dx.doi.org/10.3390/biomedicines10092276

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