S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy
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DOI: 10.18632/oncotarget.20974
Abstract: X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It is a heterogeneous disorder caused by mutations in the ATP-binding cassette protein subfamily D1 (ABCD1) gene, encoding the peroxisomal membrane protein ALDP, which is involved… read more here.
Keywords: novel mutation; s149r; linked adrenoleukodystrophy; abcd1 gene ... See more keywords