DOI: 10.1055/s-00000041

Neuropediatrics

References

Wortmann SB, Vaz FM, Gardeitchik T. , et al.
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

Nat Genet 2012;
44 (07) 797-802

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