Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
Identifieur interne : 001135 ( Ncbi/Checkpoint ); précédent : 001134; suivant : 001136Isolated generalized dystonia in biallelic missense mutations of the ATM gene.
Auteurs : Wassilios G. Meissner [France] ; Marie Fernet ; Jérôme Couturier ; Janet Hall ; Anthony Laugé ; Patrick Henry ; Dominique Stoppa-Lyonnet ; François TisonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Ataxia Telangiectasia Mutated Proteins.
- genetics : Dystonia, Mutation, Missense.
- Family Health, Female, Humans, Male.
DOI: 10.1002/mds.25487
PubMed: 23640770
Affiliations:
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pubmed:23640770Le document en format XML
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