Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference42 articles.
1. X-Linked adrenoleukodystrophy,;HW Moser,2002
2. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening.;L Bezman;Ann Neurol,2001
3. General aspects and neuropathology of X-linked adrenoleukodystrophy.;I Ferrer;Brain Pathol,2010
4. Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry.;F Valianpour;Mol Genet Metab,2003
5. X-linked adrenoleukodystrophy.;HW Moser;Nat Clin Pract Neurol,2007
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