Titre:
  • Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
Auteur:Montermini, L; Richter, Andreas; Morgan, K; Justice, C M; Julien, D; Castellotti, B; Mercier, J; Poirier, John; Capozzoli, F; Bouchard, J P; Lemieux, B; Mathieu, Jacques; Vanasse, M; Seni, M H; Graham, G; Andermann, Frederick; Andermann, Eva; Melançon, S B; Keats, J B; di Donato, S; Pandolfo, Massimo
Informations sur la publication:Annals of neurology, 41, 5, page (675-682)
Statut de publication:Publié, 1997-05
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Adult
Age of Onset
Child
DNA -- analysis
Disease Progression
Friedreich Ataxia -- classification
Friedreich Ataxia -- epidemiology
Friedreich Ataxia -- genetics
Genotype
Humans
Phenotype
Trinucleotide Repeats
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
FLWIN
Langue:Anglais
Identificateurs:urn:issn:0364-5134
info:doi/10.1002/ana.410410518
info:pmid/9153531