Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, Victoria; Montermini, Laura; Dolores Moltò, Maria; Pianese, Luigi; Cossée, Mireille; Cavalcanti, Francesca; Monros, Eugenia; Rodius, François; Duclos, Franck; Monticelli, Antonella; Zara, Federico; Cañizares, Joaquin; Koutnikova, Hana; I. Bidichandani, Sanjay; Gellera, Cinzia; Brice, Alexis; Trouillas, Paul; De Michele, Giuseppe; Filla, Alessandro; De Frutos, Rosa; Palau, Francisco; I. Patel, Pragna; Di Donato, Stefano; Mandel, Jean-Louis; Cocozza, Sergio; Koenig, Michel; Pandolfo, Massimo

doi:10.1126/science.271.5254.1423

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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Shared by NobleBlocks on Mar 8, 1996 • 12:00 AM UTC

Authors:

Victoria Campuzano

Laura Montermini

Maria Dolores Moltò

Abstract

Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25 , was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210-amino acid protein, frataxin, that has ...

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