Associated Papers
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM et al.
Orphanet Journal of Rare Diseases, 2022
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R et al.
Orphanet Journal of Rare Diseases, 2022
Molecular genetics of the NCLs -- status and perspectives.
Siintola E et al.
Biochimica Et Biophysica Acta, 2006
Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.
Sharp JD et al.
Human Mutation, 2003
The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.
Wheeler RB et al.
American Journal of Human Genetics, 2002
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