Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Identifieur interne : 000938 ( PubMed/Curation ); précédent : 000937; suivant : 000939Phenotypic variability in a dystonia family with mutations in the manganese transporter gene.
Auteurs : Cathérine C S. Delnooz ; Ron A. Wevers ; Marialuisa Quadri ; Peter T. Clayton ; Philippa B. Mills ; Karin Tuschl ; Eric J. Steenbergen ; Vincenzo Bonifati ; Bart P C. Van De WarrenburgSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Cation Transport Proteins.
- genetics : Dystonic Disorders, Mutation.
- chemical , metabolism : Manganese.
- pathology : Brain, Dystonic Disorders.
- Female, Humans, Middle Aged, Phenotype.
DOI: 10.1002/mds.25390
PubMed: 23592301
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pubmed:23592301Le document en format XML
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Mills</name></author><author><name sortKey="Tuschl, Karin" sort="Tuschl, Karin" uniqKey="Tuschl K" first="Karin" last="Tuschl">Karin Tuschl</name></author><author><name sortKey="Steenbergen, Eric J" sort="Steenbergen, Eric J" uniqKey="Steenbergen E" first="Eric J" last="Steenbergen">Eric J. Steenbergen</name></author><author><name sortKey="Bonifati, Vincenzo" sort="Bonifati, Vincenzo" uniqKey="Bonifati V" first="Vincenzo" last="Bonifati">Vincenzo Bonifati</name></author><author><name sortKey="Van De Warrenburg, Bart P C" sort="Van De Warrenburg, Bart P C" uniqKey="Van De Warrenburg B" first="Bart P C" last="Van De Warrenburg">Bart P C. 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