A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

Iron‑sulfur clusters (FeSCs) are vital components of a variety of essential proteins, most prominently within mitochondrial respiratory chain complexes I-III; Fe—S assembly and distribution is performed via multi-step pathways. Variants affecting several proteins in these pathways have been describe...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab Rep
Asıl Yazarlar: Hershkovitz, Tova, Kurolap, Alina, Tal, Galit, Paperna, Tamar, Mory, Adi, Staples, Jeffrey, Brigatti, Karlla W., Gonzaga-Jauregui, Claudia, Dumin, Elena, Saada, Ann, Mandel, Hanna, Baris Feldman, Hagit
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2020
Konular:
Research Paper
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC7797929/
https://ncbi.nlm.nih.gov/pubmed/33457206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100699
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