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Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency Patel PI; Isaya GAm J Hum Genet 2001[Jul]; 69 (1): 15-24�|*Iron-Binding Proteins[MESH]|Animals[MESH]|Frataxin[MESH]|Friedreich Ataxia/*genetics/metabolism/pathology/therapy[MESH]|Germ-Line Mutation/genetics[MESH]|Homeostasis[MESH]|Humans[MESH]|Iron/metabolism[MESH]|Mice[MESH]|Mitochondria/metabolism[MESH]|Models, Genetic[MESH]|Nucleic Acid Conformation[MESH]|Oxidative Stress[MESH]|Phosphotransferases (Alcohol Group Acceptor)/chemistry/*deficiency/genetics/metabolism[MESH]|Transcription, Genetic/genetics[MESH]|Trinucleotide Repeat Expansion/*genetics[MESH] |