Article
Characterization of a partial pseudogene homologous to the adrenoleukodystrophy gene and application to mutation detection.
Human mutation - 1 Jan 1996
Braun A, Kammerer S, Ambach H, Roscher A A
Abstract excerpt
The gene for the most common peroxisomal disorder, X-linked adrenoleukodystrophy (X-ALD, McKusick #300100), encodes a peroxisomal membrane transporter protein (ALDP), and comprises 10 exons spanning approximately 21 kb. So far, however, the mutation analysis at the genomic level was handicapped by the coamplification, in PCR reactions, of sequences related to the distal exons, also detected by Southern blot...
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