ABCD1


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AcronymDefinition
ABCD1ATP-Binding Cassette, Subfamily D, Member 1
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References in periodicals archive ?
Although it is still impossible to predict which patients will develop the neurological manifestations of the disease, it has been estimated that approximately 35-40% of children with mutations in the ABCD1 gene will develop cerebral ALD before adulthood [61, 62].
"ABCD1 is a protein located in the peroxisomes, compartments of the cell that detoxify chemicals and lipids, and thus the implication of mitochondria in such a disease was not obvious.
Thus, we recommend targeted DNA analysis of the family's ABCD1 mutation when testing women at risk of being an ALD carrier.
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.