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Article

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

American journal of human genetics - 1 Jul 2007

Siintola Eija, Topcu Meral, Aula Nina, Lohi Hannes, Minassian Berge A, Paterson Andrew D, Liu Xiao-Qing, Wilson Callum, Lahtinen Ulla, Anttonen Anna-Kaisa, Lehesjoki Anna-Elina

Abstract excerpt

The late-infantile-onset forms are the most genetically heterogeneous group among the autosomal recessively inherited neurodegenerative disorders, the neuronal ceroid lipofuscinoses (NCLs). The Turkish variant was initially considered to be a distinct genetic entity, with clinical presentation similar to that of other forms of late-infantile-onset NCL (LINCL), including age at onset from 2 to 7 years, epileptic...

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Share to Lysosomes
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17564970
DOI: 10.1086/518902
PMCID: PMC1950917

Genes

MFSD8
NCL
CLN6
CLN8

Provenance

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