Dementia from the ABCD1 mutation c.1415-1416delAG in a female carrier
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference17 articles.
1. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening;Bezman;Ann. Neurol.,2001
2. Accurate DNA-based diagnostic and carrier testing for X-linked adrenoleukodystrophy;Boehm;Mol. Genet. Metab.,1999
3. Epilepsy in adult X-linked adrenoleukodystrophy due to the deletion c.1415-1416delAG in exon 5 of the ABCD1-gene;Brownstone;Gene,2013
4. Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation;Inoue;Clin. Genet.,1996
5. Adrenoleukodystrophy in female heterozygotes: underrecognized and undertreated;Jangouk;Mol. Genet. Metab.,2012
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