Mutations in MFSD8/CLN7 are a frequent c
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Chiara Aiello; Alessandra Terracciano; Alessandro Simonati; Giancarlo Discepoli;
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Article
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2009
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John Wiley and Sons
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English
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The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants