Article
Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.
Metabolic brain disease - 1 Sept 2014
Durmaz Asude, Atik Tahir, Onay Hüseyin, Canda Ebru Erbaş, Uçar Sema Kalkan, Bademkıran Fikret, Coker Mahmut, Coğulu Özgür, Özkınay Ferda
Abstract excerpt
X linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disease characterized by progressive demyelination of the central nervous system, adrenocortical insufficiency and elevated levels of very long chain fatty acids (VLCFAs). It is caused by mutations in ABCD1 gene located at Xq28. More than 1,300 mutations have been identified to date which is unique to each patient. In this study we report the mutational...
Topics
- ATP Binding Cassette Transporter, Subfamily D, Member 1
- ATP-Binding Cassette Transporters
- Adrenoleukodystrophy
- Child
- DNA Mutational Analysis
- Female
- Humans
- Male
- Middle Aged
- Mutation