Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8

Neuronal ceroid lipofuscinoses (CNL) are lysosomal storage diseases that represent the most common cause of dementia in children. To date, 13 autosomal recessive (AR) and 1 autosomal dominant (AD) gene have been characterized. Biallelic variants in MFSD8 cause CLN7 type, with nearly 50 pathogenic va...

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Detalles Bibliográficos
Autores principales: Pasquetti, Domizia, Marangi, Giuseppe, Orteschi, Daniela, Carapelle, Marina, L’Erario, Federica Francesca, Venditti, Romina, Maietta, Sabrina, Battaglia, Domenica Immacolata, Contaldo, Ilaria, Veredice, Chiara, Zollino, Marcella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956376/
https://www.ncbi.nlm.nih.gov/pubmed/36833170
http://dx.doi.org/10.3390/genes14020245

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