Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits

Human Molecular Genetics

Volumn 7, Issue 2, 1998, Pages 291-297

  Mitchison, Hannah M ^a   Hofmann, Sandra L ^b   Becerra, Carlos H R ^b   Munroe, Patricia B ^a   Lake, Brian D ^c   Crow, Yanick J ^d   Stephenson, John B P ^d   Williams, Ruth E ^a   Hofman, Irene L ^e   Taschner, Peter E M ^f   Martin, Jean Jacques ^g   Philippart, Michel ^h   Andermann, Eva ⁱ   Andermann, Frederick ⁱ   Mole, Sara E ^a   Gardiner, R Mark ^a   O'Rawe, Angela M ^a  

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

^b UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^e Bartimeushage   (Netherlands)

^f LEIDEN UNIVERSITY   (Netherlands)

^g UNIVERSITY OF ANTWERP   (Belgium)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

THIOL ESTER HYDROLASE;

ARTICLE; CELL GRANULE; CHROMOSOME 1P; CLINICAL ARTICLE; FEMALE; HUMAN; HUMAN CELL; LYMPHOBLAST; MALE; MISSENSE MUTATION; NEURONAL CEROID LIPOFUSCINOSIS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

AGE OF ONSET; ALLELES; CHILD; CYTOPLASMIC GRANULES; DNA MUTATIONAL ANALYSIS; EUROPE; EXONS; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; HUMANS; LYMPHOCYTES; MALE; NEURONAL CEROID-LIPOFUSCINOSES; NEURONS; NORTH AMERICA; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA; THIOLESTER HYDROLASES;

EID: 6844237002     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.2.291     Document Type: Article

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