Résultats de la recherche

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Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways.
A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1