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Title:

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

Document type:
Journal Article
Author(s):
Stogmann, E; El Tawil, S; Wagenstaller, J; Gaber, A; Edris, S; Abdelhady, A; Assem-Hilger, E; Leutmezer, F; Bonelli, S; Baumgartner, C; Zimprich, F; Strom, TM; Zimprich, A
Abstract:
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage disorders and constitute the most common group of progressive neurodegenerative diseases in childhood. Most NCLs are inherited in a recessive manner and are clinically characterised by a variable age at onset, epileptic seizures, psychomotor decline, visual impairment and premature death. To date, eight causative genes have been identified to underlie various clinical forms of NCL. We performed a genome-wide linkage analysis followed by...     »
Journal title abbreviation:
Neurogenetics
Year:
2009
Journal volume:
10
Journal issue:
1
Pages contribution:
73-7
Language:
eng
Fulltext / DOI:
doi:10.1007/s10048-008-0153-1
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/18850119
Print-ISSN:
1364-6745
TUM Institution:
Institut für Humangenetik
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