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rdf:type
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Description
| - Mutation in ATP5E gene has been found to cause isolated deficiency of ATP synthase resulting in a novel type of human mitochondrial disease with peripheral neuropathy. Mutated subunit epsilon does not influence biochemical function of ATP synthase complex but inhibits its biogenesis and assembly. This is the first case of mitochondrial disease due to mutation in nuclear encoded subunit of ATP synthase
- Mutation in ATP5E gene has been found to cause isolated deficiency of ATP synthase resulting in a novel type of human mitochondrial disease with peripheral neuropathy. Mutated subunit epsilon does not influence biochemical function of ATP synthase complex but inhibits its biogenesis and assembly. This is the first case of mitochondrial disease due to mutation in nuclear encoded subunit of ATP synthase (en)
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Title
| - Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit
- Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit (en)
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skos:prefLabel
| - Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit
- Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 e subunit (en)
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skos:notation
| - RIV/67985823:_____/10:00355559!RIV11-MSM-67985823
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(1M0520), P(NS9759), Z(AV0Z50110509)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/67985823:_____/10:00355559
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - ATP-synthase; ATP5E; disease (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Houštěk, Josef
- Havlíčková, Vendula
- Ješina, Pavel
- Kaplanová, Vilma
- Nůsková, Hana
- Pecinová, Alena
- Koch, J.
- Sperl, W.
- Magler, I.
- Mayr, J. A.
- Zimmermann, F.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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