Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage

American Journal of Human Genetics

Volumn 64, Issue 6, 1999, Pages 1511-1523

  Sleat, David E ^a   Gin, Rosalie M ^a   Sohar, Istvan ^a   Wisniewski, Krystyna ^b   Sklower Brooks, Susan ^b   Pullarkat, Raju K ^b   Palmer, David N ^c   Lerner, Terry J ^d   Boustany, Rose Mary ^e   Uldall, Peter ^f   Siakotos, Aristotle N ^g   Donnelly, Robert J ^h   Lobel, Peter ^a  

^a RUTGERS UNIVERSITY   (United States)

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

^c LINCOLN UNIVERSITY   (New Zealand)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f Neuropediatric Clinic   (United States)

^g INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^h Ctr for Adv Biotech and Medicine ^*

Author keywords

[No Author keywords available]

Indexed keywords

ACID PROTEINASE; PEPSTATIN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; DEGENERATIVE DISEASE; DELETION MUTANT; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 0033365201     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302427     Document Type: Article

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