Association of mutations in a lysosomal protein with classical late- infantile neuronal ceroid lipofuscinosis

Science

Volumn 277, Issue 5333, 1997, Pages 1802-1805

  Sleat, David E ^a,b   Donnelly, Robert J ^c   Lackland, Henry ^a,b   Liu, Chang Gong ^a,b   Sohar, Istvan ^a,b   Pullarkat, Raju K ^d   Lobel, Peter ^a,b  

^a RUTGERS UNIVERSITY   (United States)

^b RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^c RUTGERS NEW JERSEY MEDICAL SCHOOL   (United States)

^d NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AFFINITY CHROMATOGRAPHY; ARTICLE; AUTOPSY; ENZYME ACTIVITY; GENE MUTATION; GENETIC CODE; LYSOSOME STORAGE DISEASE; MOTOR PERFORMANCE; NERVE DEGENERATION; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION;

AMINO ACID SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CODON; ENDOPEPTIDASES; FEMALE; GLYCOSYLATION; HUMANS; ISOELECTRIC POINT; LYSOSOMES; MALE; MANNOSEPHOSPHATES; MOLECULAR SEQUENCE DATA; MOLECULAR WEIGHT; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEPSTATINS; PEPTIDE HYDROLASES; POLYMERASE CHAIN REACTION;

EID: 0030866233     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.277.5333.1802     Document Type: Article

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25. We thank P. S. Pullarkat for technical assistance and A. B. Rabson and S. A. Moodie for providing cDNA libraries. Supported by NIH grant DK45992 and a gift from Pfizer (P.L.) and by NIH grant NS30147 (R.K.P.).