Titre:
  • Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
Auteur:Silveira, I; Miranda, C; Guimarães, L; Moreira, M-C; Alonso, I; Mendonça, P; Ferro, A; Pinto-Basto, J; Coelho, J; Ferreirinha, F; Poirier, John; Parreira, E; Vale, J; Januário, C; Barbot, C; Tuna, A; Barros, J; Koide, R; Tsuji, S; Holmes, S E; Margolis, R L; Jardim, L; Pandolfo, Massimo; Coutinho, P; Sequeiros, Jorge
Informations sur la publication:Archives of neurology, 59, 4, page (623-629)
Statut de publication:Publié, 2002-04
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Adenine -- metabolism
Adult
Aged
Alleles
Brazil
Cytosine -- metabolism
Female
Guanine -- metabolism
Heterozygote
Humans
Male
Middle Aged
Nerve Tissue Proteins -- genetics
Nerve Tissue Proteins -- metabolism
Polymerase Chain Reaction
Portugal
Spinocerebellar Ataxias -- diagnosis
Spinocerebellar Ataxias -- genetics
Trinucleotide Repeat Expansion
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:0003-9942
info:pii/noc10245
info:pmid/11939898