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Year | Number of Results |
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1995 | 1 |
2022 | 2 |
2024 | 0 |
PubMed (cited) for id: 600828
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A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11.
J Inherit Metab Dis. 2022.
PMID: 35621276
Free PMC article.
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes.
Zech M, Kopajtich R, Steinbrücker K, Bris C, Gueguen N, Feichtinger RG, Achleitner MT, Duzkale N, Périvier M, Koch J, Engelhardt H, Freisinger P, Wagner M, Brunet T, Berutti R, Smirnov D, Navaratnarajah T, Rodenburg RJT, Pais LS, Austin-Tse C, O'Leary M, Boesch S, Jech R, Bakhtiari S, Jin SC, Wilbert F, Kruer MC, Wortmann SB, Eckenweiler M, Mayr JA, Distelmaier F, Steinfeld R, Winkelmann J, Prokisch H.
Zech M, et al.
Ann Neurol. 2022 Feb;91(2):225-237. doi: 10.1002/ana.26293. Epub 2022 Jan 20.
Ann Neurol. 2022.
PMID: 34954817
Free PMC article.
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Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2.
Chen H, Morris MA, Rossier C, Blouin JL, Antonarakis SE.
Chen H, et al.
Genomics. 1995 Aug 10;28(3):470-6. doi: 10.1006/geno.1995.1176.
Genomics. 1995.
PMID: 7490082
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