Titre:
  • Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Auteur:Campuzano, V; Montermini, L; Moltò, M D; Pianese, Luigi; Cossée, Mireille; Cavalcanti, F; Monros, E; Rodius, F; Duclos, F; Monticelli, Antonella; Zara, F; Cañizares, J; Koutnikova, H; Bidichandani, S I; Gellera, Cinzia; Brice, Alexis; Trouillas, P; De Michele, G; Filla, A; de Frutos, R; Palau, F; Patel, P I; di Donato, S; Mandel, J L; Cocozza, Sergio; Koenig, Michel; Pandolfo, Massimo
Informations sur la publication:Science, 271, 5254, page (1423-1427)
Statut de publication:Publié, 1996-03
Sujet CREF:Sciences bio-médicales et agricoles
MeSH keywords:Alleles
Amino Acid Sequence
Base Sequence
Chromosomes, Human, Pair 9 -- genetics
DNA Primers
Female
Friedreich Ataxia -- genetics
Genes, Recessive
Heterozygote
Humans
Introns
Iron-Binding Proteins
Male
Molecular Sequence Data
Pedigree
Point Mutation
Polymerase Chain Reaction
Proteins -- chemistry
Proteins -- genetics
Sequence Alignment
Trinucleotide Repeats
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Langue:Anglais
Identificateurs:urn:issn:0036-8075
info:pmid/8596916