Article
Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy.
Genetic testing - 1 Jan 2001
Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, Loewenthal R
Abstract excerpt
X-linked adrenoleukodystrophy (ALD) is a peroxisomal disorder characterized by impaired peroxisomal betaoxidation of very-long-chain fatty acids (VLCFAs). This is probably due to reduced activation of the VLCFAs and results in demyelination of the nervous system and adrenocortical insufficiency. The ALD gene is localized on Xq28, has 10 exons and encodes a protein of 745 amino acids with significant homology to...
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