Novel compound heterozygous mutations in PRKRA cause pure dystonia.
Identifieur interne : 004271 ( Ncbi/Checkpoint ); précédent : 004270; suivant : 004272Novel compound heterozygous mutations in PRKRA cause pure dystonia.
Auteurs : Patricia De Carvalho Aguiar [Brésil] ; Vanderci Borges [Brésil] ; Henrique Ballalai Ferraz [Brésil] ; Laurie Jean Ozelius [États-Unis]Source :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2015.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : RNA-Binding Proteins.
- genetics : DNA Copy Number Variations, Dystonic Disorders, Exome.
- Family Health, Female, Humans, Male.
DOI: 10.1002/mds.26175
PubMed: 25737287
Affiliations:
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pubmed:25737287Le document en format XML
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