Mutations in the phospholipid remodeling gene SERAC1 impair...

Nature Genetics 2012 / 6 Vol. 44; Iss. 7

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Wortmann, Saskia B, Vaz, Frédéric M, Gardeitchik, Thatjana, Vissers, Lisenka E L M, Renkema, G Herma, Schuurs-Hoeijmakers, Janneke H M, Kulik, Wim, Lammens, Martin, Christin, Christin, Kluijtmans, Leo
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Volume:
44
Language:
english
Journal:
Nature Genetics
DOI:
10.1038/ng.2325
Date:
June, 2012
File:
PDF, 796 KB
english, 2012
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