Associated Papers
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking.
Rodríguez-García ME et al.
Neurogenetics, 2016
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB et al.
Nature Genetics, 2012
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