Xu Y, Fan Y, Yu L, Jiang Y, Yang R, Han Y, Cui Y, Ren M, Zhao S
State Key Laboratory of Genetic Engineering, Institute of Genetics, Fudan University,Shanghai, 200433 P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Oct 10;15(5):284-7.
To screen for mutation hotspot of Wilson's disease (WD) gene in Chinese.
Cycle sequencing was used to detect mutation in exon 8 of WD gene in 30 patients with WD.
The same missense mutation, Arg778Leu, was identified in 14 WD patients, four of which were homozygous and the others were heterozygous for this mutation. The frequency of this mutation was 30%.
The codon 778(CGG-->CTG) of exon 8 in WD gene was one of mutation hotspots in Chinese.
