Article
[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II].
Zhonghua yi xue za zhi - 10 Nov 2003
Feng Yi-guo, Xiao Sheng-xiang, Li Li, Wang Jun-min, Tan Sheng-shun, Shi Yao-zhou
Abstract excerpt
OBJECTIVE: To detect the keratin 17 gene mutation in a Chinese pedigree of typical delayed-onset pachyonychia congenita type II (PC-II) and to explore the relationship between the genetic mutation and the phenotype of PC-II. METHODS: The DNA was extracted from the blood samples of 19 patients with PC-II in four generations in the pedigree, 1 unaffected member of the pedigree, and 50 un-related normal persons....
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