Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Journal of Clinical Investigation

Volumn 119, Issue 6, 2009, Pages 1595-1603

  Kurian, Manju A ^a,b   Zhen, Juan ^c   Cheng, Shu Yuan ^c   Li, Yan ^c   Mordekar, Santosh R ^d   Jardine, Philip ^e   Morgan, Neil V ^a   Meyer, Esther ^a   Tee, Louise ^a   Pasha, Shanaz ^a   Wassmer, Evangeline ^b   Heales, Simon J R ^f,g   Gissen, Paul ^a   Reith, Maarten E A ^c   Maher, Eamonn R ^a,h  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^c NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^f National Hospital   (United Kingdom)

^g GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^h BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE TRANSPORTER;

ARTICLE; CASE REPORT; CHILD; DISEASE PREDISPOSITION; DYSTONIA; GENE; HOMOZYGOSITY; HUMAN; INFANTILE PARKINSONISM DYSTONIA; LOSS OF FUNCTION MUTATION; PARKINSONISM; PRESCHOOL CHILD; PRIORITY JOURNAL; SLC6A3 GENE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 5; DOPAMINE PLASMA MEMBRANE TRANSPORT PROTEINS; DYSTONIA; FEMALE; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PARKINSONIAN DISORDERS; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 67651007160     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI39060     Document Type: Article

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