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Ataxia with Ocular Apraxia Type 1 (AOA1) (APTX, W279*Mutation): Neurological, Neuropsychological, and Molecular Outlining of a Heterogenous Phenotype in Four Colombian Siblings

Aguillon David,Vasquez Daniel,Madrigal Lucia,Moreno Sonia,Hernández Dora,Isaza-Ruget Mario,Lopez Juan Javier,Landires Iván,Nunez-Samudio Virginia,Restrepo Carlos M.,Vidal Oscar M.,Vélez Jorge I.,Arcos-Holzinger Mauricio,Lopera Francisco,Arcos-Burgos Mauricio

Molecular Neurobiology（2022）

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Key words
Ataxia with ocular apraxia type 1,AOA1,APTX,W279* mutation,C2H2-type zinc fingers,Colombia,Latino population
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