Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
par 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
Référence Science, 271, 5254, page (1423-1427)
Publication Publié, 1996-03
Référence Science, 271, 5254, page (1423-1427)
Publication Publié, 1996-03
Article révisé par les pairs
Titre: |
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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 |