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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy

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Figure

Figure 1. Scheme depicting enzyme defects associated with neurological disorders in the sphingolipid metabolism pathway, and fingolimod (FTY720) action
Figure 2. Schematic representation of human DEGS1 (NP_003667.1) and its functional domains with variants identified in patients
Table 1. Clinical description of families 1 to 5
Table 2. Clinical description of families 6 to 13
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