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Year | Number of Results |
---|---|
1998 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 1353
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Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
Int J Mol Sci. 2023 Nov 23;24(23):16636. doi: 10.3390/ijms242316636.
Int J Mol Sci. 2023.
PMID: 38068960
Free PMC article.
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
Rius R, Bennett NK, Bhattacharya K, Riley LG, Yüksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J.
Rius R, et al.
Hum Mutat. 2022 Dec;43(12):1970-1978. doi: 10.1002/humu.24453. Epub 2022 Sep 7.
Hum Mutat. 2022.
PMID: 36030551
Free PMC article.
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Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M.
Petruzzella V, et al.
Genomics. 1998 Dec 15;54(3):494-504. doi: 10.1006/geno.1998.5580.
Genomics. 1998.
PMID: 9878253
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