Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.

@article{Lan2011MolecularDO,
  title={Molecular diagnosis of X-linked adrenoleukodystrophy: experience from a clinical genetic laboratory in mainland China with report of 13 novel mutations.},
  author={F. Lan and Zhihong Wang and Hai-hua Xie and Liang-hu Huang and Long-feng Ke and Bo-sheng Yang and Zhong-yong Zhu},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={2011},
  volume={412 11-12},
  pages={
          970-4
        }
}
BACKGROUND X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder characterized by progressive demyelination of the nervous system, adrenocortical insufficiency and increase of very long chain fatty acids (VLCFAs) in the plasma and tissues. METHODS A total of 131 individuals from 30 Chinese pedigrees were involved in this study, including 42 symptomatic patients, 44 female carriers, and 15 high-risk fetuses from 13 families. The mutation was first pinpointed through long… Expand

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