Menkes gene study in the Chinese population.

Abstract

We sought to determine the nature of the molecular defect causing Menkes' syndrome in the Chinese population. The DNA of four patients with typical Menkes manifestation was sequenced. Two pathologic genetic defects were identified; one of them is a nonsense mutation, whereas the other is a frameshift mutation. Both of these mutations are de novo.

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@article{Mak2002MenkesGS, title={Menkes gene study in the Chinese population.}, author={Betty Suk-chun Mak and Ching-Shiang Chi and Chi-Ren Tsai}, journal={Journal of child neurology}, year={2002}, volume={17 4}, pages={250-2} }