Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
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| Description | scientific article |
| Author/s |
author: Q88488334 Richard J Rodenburg Joris A Veltman Thatjana Gardeitchik Joachim M Gerhold Herma Renkema Ron A. Wevers Arjan P M de Brouwer Tamas Kozicz Frédéric M Vaz Dirk J Lefeber Anne Grünewald Ewa Pronicka Eva Morava Christine Klein Martin Lammens Janneke H M Schuurs-Hoeijmakers Peter M van Hasselt Karin Naess Lisenka Vissers Hans van Bokhoven Christian Gilissen Johannes N Spelbrink |
| Publication date | June 10, 2012 |
| Language | English |
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