Titre:
  • Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
Auteur:Cossée, Mireille; Dürr, A; Schmitt, M.; Dahl, N; Trouillas, P; Allinson, P; Kostrzewa, M; Nivelon-Chevallier, A; Gustavson, K H; Kohlschütter, A; Müller, U; Mandel, J L; Brice, Alexis; Koenig, Michel; Cavalcanti, F; Tammaro, A; De Michele, G; Filla, A; Cocozza, Sergio; Labuda, Małgorzata; Montermini, L; Poirier, John; Pandolfo, Massimo
Informations sur la publication:Annals of neurology, 45, 2, page (200-206)
Statut de publication:Publié, 1999-02
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adolescent
Adult
Child
Child, Preschool
Chromosome Mapping
DNA Mutational Analysis
Female
Friedreich Ataxia -- genetics
Heterozygote
Humans
Male
Point Mutation -- genetics
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/10.1002/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U
info:pmid/9989622