Article
Two novel multiple mutations in chinese patients with adrenoleukodystrophy.
Neuropediatrics - 1 Jun 2010
Ke L-F, Wang Z-H, Huang L-H, Xie H-H, Lan Feng-Hua
Abstract excerpt
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene. Up to now, more than 1 050 mutations have been reported in the ABCD1 gene, of which only 10 are multiple mutations in one allele of the gene. In this study, we report 2 novel multiple mutations in 2 patients with X-ALD from 2 unrelated Chinese families. Total RNA and genomic DNA were isolated from...
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