Affiliation: Johns Hopkins University
- X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicismYing Wang
DNA Diagnostic Laboratory, Johns Hopkins University School of Medicine, CMSC1004, 600 N Wolfe Street, Baltimore, MD 21287, USA
Mol Genet Metab 104:160-6. 2011..However, the residual maternal risk for having additional ovum carrying the mutant allele identified in an index case that appears to have a de novo mutation is at least 13%...