A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>>>A) leading to excision of exon 3

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>>>A) leading to excision of exon 3

Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and seizures, leading to premature death. To date, eight different genes have been identified, each associated with a different form. Linkage analysis indi...

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Bibliographic Details
Main Authors: Tony Frugier, Nadia L. Mitchell, Imke Tammen, Peter J. Houweling, Donald G. Arthur, Graham W. Kay, Otto P. van Diggelen, Robert D. Jolly, David N. Palmer
Format: Article
Language:English
Published: Elsevier 2008-02-01
Series:Neurobiology of Disease
Subjects:
CLN5
NCL
Batten disease
mRNA splicing
Animal model
Borderdale sheep
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996107002203

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http://www.sciencedirect.com/science/article/pii/S0969996107002203

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