Article révisé par les pairs
Titre:
  • High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.
Auteur:Denier, C; Ducros, A; Vahedi, Kouroche; Joutel, A; Thierry, P; Ritz, A; Castelnovo, G; Deonna, T; Gérard, Philippe; Devoize, J L; Gayou, A; Perrouty, B; Soisson, T; Autret, A; Warter, Jean-Marie; Vighetto, A; Van Bogaert, Patrick; Alamowitch, Sonia; Roullet, E; Tournier-Lasserve, E
Informations sur la publication:Neurology, 52, 9, page (1816-1821)
Statut de publication:Publié, 1999-06
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Adult
Age of Onset
Cerebellar Ataxia -- genetics
Child
Child, Preschool
Chromosome Mapping
Female
Humans
Male
Middle Aged
Mutation -- genetics
Pedigree
Polymorphism, Genetic
Time Factors
Trinucleotide Repeats -- genetics
Note générale:Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:0028-3878
info:scp/0032975258
info:pmid/10371528

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