Browsing Centre for Clinical Pharmacology by Subject "Gene Regulatory Networks"

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    • PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. 

      Chelban, V; Wilson, MP; Warman Chardon, J; Vandrovcova, J; Zanetti, MN; Zamba-Papanicolaou, E; Efthymiou, S; Pope, S; Conte, MR; Abis, G (2019-08)
      OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, ...