Article

Identification of a novel mutation and a rare case of CLN6 and computation protein structure

2023-08-15

Abstract excerpt

<title>Abstract</title> <p>Neuronal ceroid lipofuscinoses (NCLs) also known as Batten disease jointly account the highest incidences of hereditary neurodegenerative disease in childhood. This disease is mostly presented by vision loss, ataxia, premature mortality in later stages of disease and epileptic seizures. NCLs are categorized in different type that is relied on deficiencies in several genes. CLN6 is one o...

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Literature Corpus work: 8b5a62ec-6059-541b-ba24-c92086d73933
DOI: 10.21203/rs.3.rs-3186227/v1

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