Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano, V; Montermini, L; Moltò, M D; Pianese, L; Cossée, M; Cavalcanti, F; Monros, E; Rodius, F; Duclos, F; Monticelli, A; Zara, F; Cañizares, J; Koutnikova, H; Bidichandani, S I; Gellera, C; Brice, A; Trouillas, P; De Michele, G; Filla, A; De Frutos, R; Palau, F; Patel, P I; Di Donato, S; Mandel, J L; Cocozza, S; Koenig, M; Pandolfo, M

Campuzano, V; Montermini, L; Moltò, M D; Pianese, L; Cossée, M; Cavalcanti, F; Monros, E; Rodius, F; Duclos, F; Monticelli, A; Zara, F; Cañizares, J; Koutnikova, H; Bidichandani, S I; Gellera, C; Brice, A; Trouillas, P; De Michele, G; Filla, A; De Frutos, R; Palau, F; Patel, P I; Di Donato, S; Mandel, J L; Cocozza, S; Koenig, M; Pandolfo, M.

Affiliation

Campuzano V; Department de Genetica, University of Valencia, Spain.

Science ; 271(5254): 1423-7, 1996 Mar 08.

Article in En | MEDLINE | ID: mdl-8596916

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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 9 / Friedreich Ataxia / Introns / Proteins / Trinucleotide Repeats / Iron-Binding Proteins Limits: Female / Humans / Male Language: En Journal: Science Year: 1996 Document type: Article Affiliation country: Country of publication:

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