Adrenoleukodystrophy

OMIM:300100
Mode of inheritance:X-linked recessive
Disease classification:Endocrine, nutritional and metabolic disease

Mutations

Gene Symbol	ABCD1
Reference transcript	NM_000033.3
DNA Change	c.1677C>G
A.A. Change	p.Tyr559*
Exon/Intron	exon 7
Mutation Type	substitution
Reference	Karkar A, Barakat A, Bakhchane A, Fettah H, Slassi I, Dorboz I, Boespflug-Tanguy O, Nadifi S. A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report. BMC Neurol. 2015 Nov 25;15:244. doi: 10.1186/s12883-015-0503-1.

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