Associated Papers
Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.
Griffith J et al.
Genes, 2022
36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.
Chin JJ et al.
Molecular Genetics and Metabolism, 2019
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Same gene, surprising difference: adult neuronal ceroid lipofuscinosis linked to CLN6, mutated in variant late-infantile form.
Kay C
Clinical Genetics, 2011
Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Arsov T et al.
American Journal of Human Genetics, 2011
Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late infantile.
Cismondi IA et al.
Human Genetics, 2008
Gene symbol: CLN6. Disease: Neuronal ceroid lipofuscinosis, late Infantile.
Cismondi IA et al.
Human Genetics, 2008
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