Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.

@article{Mak2005NovelI4,
  title={Novel insertion 496_497insG creating a stop codon D194X in a Chinese family with X-Linked adrenoleukodystrophy.},
  author={Chloe Miu Mak and Karen Siu-Ling. Lam and Oliver Chiu-Kit Ma and Annette Wai Kwan Tso and Sidney Tam},
  journal={Hormone research},
  year={2005},
  volume={63 1},
  pages={1-5}
}
X-linked adrenoleukodystrophy (XALD, MIM 300100), the commonest inherited peroxisomal disorder, is characterized by central nervous system demyelination, primary adrenal failure and the systemic accumulation of saturated very long chain fatty acids (VLCFAs). The defective gene ABCD1 encodes an ATP-binding cassette (ABC) transport protein named ALDP, which functions as a crucial transporter of VLCFAs into the peroxisomes for beta-oxidation. Here, we report a Chinese man with… CONTINUE READING