Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

Human Mutation

Volumn 14, Issue 3, 1999, Pages 199-215

  Mole, Sara E ^a   Mitchison, Hannah M ^a   Munroe, Patricia B ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Batten disease; CLN1; CLN2; CLN3; CLN4; CLN5; CLN6; CLN7; CLN8; NCL; Neurodegeneration; Neuronal ceroid lipofuscinosis

Indexed keywords

GENE ISOLATION; GENE MUTATION; HUMAN; LYSOSOME; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL; REVIEW;

DATABASES, FACTUAL; DNA MUTATIONAL ANALYSIS; ENDOPEPTIDASES; HUMANS; HYDROGEN-ION CONCENTRATION; INTRACELLULAR MEMBRANES; LIPOFUSCIN; LYSOSOMES; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MOLECULAR CHAPERONES; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEPTIDE HYDROLASES; POLYMORPHISM, GENETIC; PROTEINS; THIOLESTER HYDROLASES;

EID: 0032838468     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)14:3<199::AID-HUMU3>3.0.CO;2-A     Document Type: Review

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