Title : CLN6 p.I154del mutation causing late infantile neuronal ceroid lipofuscinosis in a large consanguineous Moroccan family.

Pub. Date : 2013 Aug

PMID : 23180398






1 Functional Relationships(s)
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1 The neuronal ceroid-lipofuscinosis (NCL) are a heterogeneous group of neurodegenerative diseases characterized by the lysosomal accumulation of ceroid and lipofuscin with mitochondrial ATP synthase subunit C in various tissues. Lipofuscin ATP synthase membrane subunit c locus 1 Homo sapiens