Article
Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.
The Journal of clinical investigation - 1 Aug 1994
Fanen P, Guidoux S, Sarde C O, Mandel J L, Goossens M, Aubourg P
Abstract excerpt
The recently identified adrenoleukodystrophy (ALD) gene is predicted to encode a peroxisomal protein of 745 amino acids that includes one domain for ATP-binding, termed nucleotide-binding fold (NBF). To determine whether mutations occur in the putative NBF of ALD protein, we analyzed by denaturing gradient gel electrophoresis (DGGE) exon 6 and 8 that encode most part of this domain in 50 ALD patients. Four amino...
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