Further phenotypic heterogeneity of CoQ10 deficiency associated with Steroid Resistant Nephrotic Syndrome and novel COQ2 and COQ6 variants

Autor:	Gigante, M., Diella, S., Santangelo, L., Trevisson, E., Acosta, M. J., Amatruda, M., Finzi, G., Caridi, G., Murer, L., Accetturo, M., Ranieri, E., Ghiggeri, G. M., Giordano, M., Grandaliano, Giuseppe, Salviati, L., Gesualdo, L.
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	Male Mitochondrial Diseases Muscle Weakness Nephrotic Syndrome Ubiquinone DNA Mutational Analysis COQ2 yeast model COQ6 Pedigree Coenzyme Q10 deficiency Mutation Humans Settore MED/14 - NEFROLOGIA Ataxia Computer Simulation Female Steroid Resistant Nephrotic Syndrome
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e46365986c4cf91f173fe2d789f48f92 http://hdl.handle.net/11577/3220329 Zobrazit plný text záznamu