Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

Nm Allen,B O’Hici,S Ann Lynch,Md King,T Nestor,G Anderson

doi:10.1111/j.1399-0004.2011.01777.x

Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

Nm Allen, B O’Hici + Show 4 more

https://doi.org/10.1111/j.1399-0004.2011.01777.x

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Journal: Clinical Genetics	Publication Date: Dec 28, 2011
Citations: 19

Affiliation: Temple Street Children's University Hospital, Our Lady's Hospital, Children's Health Ireland at Crumlin, Great Ormond Street Hospital, University College London

#Variant Late-infantile Neuronal Ceroid Lipofuscinosis #Heterozygous Mutation #Variant Late-infantile Neuronal Ceroid #Late-infantile Neuronal Ceroid Lipofuscinosis #Neuronal Ceroid Lipofuscinosis #CLN8 Mutation

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Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion

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Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion