In:
Journal of Child Neurology, SAGE Publications, Vol. 17, No. 4 ( 2002-04), p. 250-252
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. (J Child Neurol 2002;17:250-252).
Type of Medium:
Online Resource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/088307380201700402
Language:
English
Publisher:
SAGE Publications
Publication Date:
2002
detail.hit.zdb_id:
2068710-2
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