Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

Margherita GiganteS DiellaL SantangeloE TrevissonM J AcostaM AmatrudaG FinziG CaridiL MurerM AccetturoE RanieriG M GhiggeriM GiordanoG GrandalianoL SalviatiL Gesualdo

Published in: Clinical genetics (2017)

Keyphrases

copy number
single cell
gene expression
replacement therapy