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The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
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The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8.
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet. 1999 Oct; 23(2):233-6.
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PubMed
subject areas
Amino Acid Sequence
Amino Acid Substitution
Animals
Base Sequence
Blotting, Northern
Chromosome Mapping
DNA Mutational Analysis
Epilepsy
Exons
Family Health
Female
Genes
Humans
Intellectual Disability
Introns
Membrane Proteins
Mice
Mice, Mutant Strains
Molecular Sequence Data
Mutagenesis, Insertional
Mutation
Neuronal Ceroid-Lipofuscinoses
Pedigree
Point Mutation
RNA, Messenger
Sequence Alignment
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Tissue Distribution
authors with profiles
T. Conrad Gilliam