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Showing 1 to 1 of 1 for “"GFER protein, human"”.

  1. IDENTIFICAZIONE DI UNA NUOVA CAUSA GENETICA IN UN CASO FAMILIARE DI ENCEFALOMIOPATIA MITOCONDRIALE E DEFICIT DI CITOCROMO C OSSIDASI.

    … we identified a missense mutation within the GFER gene as the cause of an infantile progressive mitochondrial myopathy. The human GFER (growth factor ERV1 homolog), also called ALR (augmenter of liver regeneration), belongs to the ERV1/ALR sulfhydryl oxidase family, which requires flavin …

    milano Repository record for IDENTIFICAZIONE DI UNA NUOVA CAUSA GENETICA IN UN CASO FAMILIARE DI ENCEFALOMIOPATIA MITOCONDRIALE E DEFICIT DI CITOCROMO C OSSIDASI. (opens in a new tab)