Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.

@article{Fanen1994IdentificationOM,
  title={Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.},
  author={Pascale Fanen and Sylvie Guidoux and Claude Olivier Sarde and J. L. Mandel and M. Goossens and Patrick R Aubourg},
  journal={The Journal of clinical investigation},
  year={1994},
  volume={94 2},
  pages={516-20}
}
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 acid substitutions, three frameshift mutations leading to premature termination… CONTINUE READING
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Adrenoleukodystrophy (X-linked). In The Metabolic Basis of Inherited Disease

  • H. W. Moser, A. B. Moser
  • 1989
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