Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy.

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作者： Antonino,Musumeci ^[1] ; Francesco,Calì ^[1] ; Carmela,Scuderi ^[1] ; Mirella,Vinci ^[1] ; Girolamo Aurelio,Vitello ^[1] ; Sebastiano Antonino,Musumeci ^[1] ; Valeria,Chiavetta ^[1] ; Concetta,Federico ^[2] ; Greta,Amore ^[3] ; Salvatore,Saccone ^[2] ; Gabriella,Di Rosa ^[3] ; Antonio Gennaro,Nicotera ^[3]

作者单位： Oasi Research Institute-IRCCS, Via Conte Ruggero 73, 94018 Troina, Italy. ^[1] Department Biological, Geological and Environmental Sciences, University of Catania, Via Androne 81, 95124 Catania, Italy. ^[2] Department of Human Pathology of the Adult and Developmental Age, "Gaetano Barresi" University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy. ^[3]

关键词 POLR3A hypomyelination leukodystrophy missense mutation neurodegenerative disorder

DOI 10.3390/biomedicines10092276

PMID 36140376

发布时间 2023-03-08

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Biomedicines

2022年10卷9期

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Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Biomedicines

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Identification of a Novel Missense Mutation of <i>POLR3A</i> Gene in a Cohort of Sicilian Patients with Leukodystrophy.

Biomedicines

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Biomedicines

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