A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report


BACKGROUND X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain… (More)
DOI: 10.1186/s12883-015-0503-1

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