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pro vyhledávání: '"Eftekharian, Shaya S."'
Autor:
Huang, Wei-Lin, Steenari, Maija R., Barrick, Rebekah, Simon, Mariella T., Chang, Richard, Eftekharian, Shaya S., Stover, Alexander, Schwartz, Philip H., Latini, Alexandra, Abdenur, Jose E.
Publikováno v:
In Molecular Genetics and Metabolism Reports March 2024 38
Akademický článek
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
Autor:
Simon, Mariella T., Eftekharian, Shaya S., Stover, Alexander E., Osborne, Aaron F., Braffman, Bruce H., Chang, Richard C., Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Benke, Paul J., Abdenur, Jose E.
Publikováno v:
In Molecular Genetics and Metabolism January 2019 126(1):53-63
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
Autor:
Simon, Mariella T, Eftekharian, Shaya S, Stover, Alexander E, Osborne, Aaron F, Braffman, Bruce H, Chang, Richard C, Wang, Raymond Y, Steenari, Maija R, Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J, Benke, Paul J, Abdenur, Jose E
Publikováno v:
Molecular genetics and metabolism, vol 126, iss 1
Primary mitochondrial complex I deficiency is the most common defect of the mitochondrial respiratory chain. It is caused by defects in structural components and assembly factors of this large protein complex. Mutations in the assembly factor NDUFAF5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::c36edd61c3ddd17e80dfc752621f266b
https://escholarship.org/uc/item/9pr0w4vz
https://escholarship.org/uc/item/9pr0w4vz
Autor:
Huang WL; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Steenari MR; Division of Neurology, CHOC Children's, Orange, CA, United States.; Department of Pediatrics, University of California Irvine, Orange, CA, United States., Barrick R; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Simon MT; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Chang R; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.; Department of Pediatrics, University of California Irvine, Orange, CA, United States., Eftekharian SS; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Stover A; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Schwartz PH; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States., Latini A; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.; Laboratório de Bioenergética e Estresse Oxidativo - LABOX, Departamento de Bioquímica, Centro de Ciências Biológicas, Universidade Federal de Santa Catarina, Florianópolis, Santa Catarina, Brazil., Abdenur JE; Division of Metabolic Disorders, CHOC Children's, Orange, CA, United States.; Department of Pediatrics, University of California Irvine, Orange, CA, United States.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2023 Dec 02; Vol. 38, pp. 101025. Date of Electronic Publication: 2023 Dec 02 (Print Publication: 2024).