Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. [electronic resource]
- Orphanet journal of rare diseases Jan 2012
- 10 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1750-1172
10.1186/1750-1172-7-10 doi
ATP Binding Cassette Transporter, Subfamily D, Member 1 ATP-Binding Cassette Transporters--genetics Adrenoleukodystrophy--genetics Adult Aged Alleles Chromosomes, Human, X Female Gene Expression Regulation--physiology Humans Middle Aged Mutation Young Adult