Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Human Molecular Genetics

Volumn 21, Issue 12, 2012, Pages 2646-2650

  Bras, Jose ^a   Verloes, Alain ^b,c   Schneider, Susanne A ^d   Mole, Sara E ^e,f   Guerreiro, Rita J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c Liège University Hospital   (Belgium)

^d UNIVERSITY OF LÜBECK   (Germany)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; EXOME; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LYSOSOME; NEURONAL CEROID LIPOFUSCINOSIS; PARKINSONISM; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PARKINSONIAN DISORDERS; PEDIGREE; PROTON-TRANSLOCATING ATPASES; SEQUENCE HOMOLOGY, AMINO ACID;

PARKINSONIA;

EID: 84861723960     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds089     Document Type: Article

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