Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Articles > Article · 2012
Authors: SB WORTMANN, FM VAZ, T GARDEITCHIK, LE VISSERS, GH RENKEMA, JH SCHUURS-HOEIJMAKERS, W KULIK, M LAMMENS, C CHRISTIN, LA KLUIJTMANS, RJ RODENBURG, LG NIJTMANS, A GRÜNEWALD, C KLEIN, JM GERHOLD, T KOZICZ, Hasselt van, M HARAKALOVA, W KLOOSTERMAN, I BARIC, E PRONICKA, Sema KALKAN UÇAR, K NAESS, KK SINGHAL, Z KRUMINA, C GILISSEN, Bokhoven van, JA VELTMAN, JA SMEITINK, DJ LEFEBER, JN SPELBRINK, RA WEVERS, E MORAVA, Brouwer de
Nature Genetics, Journal Indexed in SCI Expanded, International, WoS, 2012, vol 44, pp 797-802
DOI: 10.1038/ng.2325