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Identification of mutation c. 632G > A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease 期刊论文
INTERNATIONAL JOURNAL OF DERMATOLOGY, 2011, 卷号: 50, 期号: 11, 页码: 1366-1370
作者:  Lu FY;  Xu L;  Yin XG;  Wan P;  Zhang XD
收藏  |  浏览/下载:10/0  |  提交时间:2011/12/12
Screening the three LHON primary mutations in the general Chinese population by using an optimized multiplex allele-specific PCR 期刊论文
CLINICA CHIMICA ACTA, 2010, 卷号: 411, 期号: 21-22, 页码: 1671-1674
作者:  Bi R;  Zhang AM;  Yu DD;  Chen DN;  Yao YG[*]
收藏  |  浏览/下载:15/0  |  提交时间:2010/10/28
Mitochondrial DNA Haplogroups M7b1 ' 2 and M8a Affect Clinical Expression of Leber Hereditary Optic Neuropathy in Chinese Families with the m.11778G -> A Mutation 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 卷号: 83, 期号: 6, 页码: 760-768
作者:  Ji YL;  Zhang AM;  Jia XY;  Zhang YP;  Xiao XS
收藏  |  浏览/下载:8/0  |  提交时间:2010/08/24


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