Andrés Caballero Oteyza

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OBJECTIVE To identify a novel disease gene in 2 families with autosomal recessive hereditary spastic paraplegia (HSP). METHODS We used whole-exome sequencing to identify the underlying genetic disease cause in 2 families with apparently autosomal recessive spastic paraplegia. Endogenous expression as well as subcellular localization of wild-type and(More)
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