Cell biological defects in juvenile neuronal ceroid lipofuscinosis
Mutations in the CLN3 gene cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), a form of Batten disease that is grouped within the broad class of lysosomal storage diseases. JNCL displays a primary central nervous system phenotype characterized by rapid onset blindness, wide spread brain atrophy a...
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Format: | Others |
Language: | English |
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University of Iowa
2013
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Online Access: | https://ir.uiowa.edu/etd/6498 https://ir.uiowa.edu/cgi/viewcontent.cgi?article=7998&context=etd |