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

作者信息

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 G, Salviati L, Gesualdo L

机构信息

Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.

Unit of Pediatric Nephrology, University Hospital "Policlinico Consorziale - Giovanni XXIII", Bari, Italy.

出版信息

Clin Genet. 2017 Aug;92(2):224-226. doi: 10.1111/cge.12960. Epub 2017 Mar 22.

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