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Journal of Child Neurology
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Menkes Gene Study in the Chinese Population

Betty Suk-Chun Mak, MD

Department of Pediatrics Taichung Veterans General Hospital, Taiwan

Ching-Shiang Chi, MD

Department of Pediatrics Taichung Veterans General Hospital, Taiwan

Chi-Ren Tsai, MSc

Department of Pediatrics Taichung Veterans General Hospital, Taiwan

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. (J Child Neurol 2002;17:250-252).

Journal of Child Neurology, Vol. 17, No. 4, 250-252 (2002)
DOI: 10.1177/088307380201700402
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?