Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene

Abstract Background X-linked adrenoleukodystrophy is caused by a defective peroxisomal membrane transporter, ABCD1, responsible for transporting very-long-chain fatty acid substrate into peroxisomes for degradation. The main biochemical defect, which is also one of the major diagnostic hallmarks, of...

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Veröffentlicht in:	Pediatric neurology 2013-09, Vol.49 (3), p.185-190
Hauptverfasser:	Hung, Kun-Long, MD, Wang, Jinn-Shyan, PhD, Keng, Wee Teik, MD, Chen, Hui-Ju, MD, Liang, Jao-Shwann, MD, Ngu, Lock Hock, MD, Lu, Jyh-Feng, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenoleukodystrophy - genetics ATP Binding Cassette Transporter, Sub-Family D, Member 1 ATP-Binding Cassette Transporters - genetics DNA Mutational Analysis Exons - genetics Female Genetic Predisposition to Disease - genetics Humans Magnetic Resonance Imaging Malaysia Male Mutation, Missense - genetics Neurology Numerical Analysis, Computer-Assisted Pediatrics Sequence Deletion Taiwan
Online-Zugang:	Volltext
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