Article
Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy.
Biochemical and biophysical research communications - 28 Jan 1994
Uchiyama A, Suzuki Y, Song X Q, Fukao T, Imamura A, Tomatsu S, Shimozawa N, Kondo N, Orii T
Abstract excerpt
The molecular basis of X-linked adrenoleukodystrophy (ALD) was investigated. Six (A to 50) fragments of cDNA for ALD protein (Mosser et al. Nature 361: 726-730, 1993) from an adult patient with adrenomyeloneuropathy were amplified by PCR and mutations were screened by Mutation Detection Enhancement gel electrophoresis. A single base substitution (2154 C-->T, which resulted in the formation of a termination codon...
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