Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01777.x/fullpdf
Reference4 articles.
1. Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration.;Hirvasniemi;J Med Genet,1994
2. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.;Vantaggiato;Hum Mutat,2009
3. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis.;Reinhardt;Clin Genet,2010
4. A novel mutation of the CLN8 gene: is there a Mediterranean phenotype?;Zelnik;Pediatr Neurol,2007
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