<i>CLN8</i> Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses

<i>CLN8</i> Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses

The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failur...

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Bibliographic Details
Main Authors: Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalka, Amit Kessel, Ayman Asaly, Wasif Al-Shareef, Muhammad Mahajnah
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Genes
Subjects:
neuronal ceroid lipofuscinoses (NCL)
CLN8 disease
<i>CLN8</i> gene
compound heterozygous variant
neurodegenerative disease
bioinformatic analyses
Online Access:https://www.mdpi.com/2073-4425/13/8/1393

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https://www.mdpi.com/2073-4425/13/8/1393

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