Dominant Dystrophic Epidermolysis Bullosa with COL7A1 Variant Confirmed by Whole-Exome Sequencing in a Chinese Family and Genotype-Phenotype Correlation Analysis
通过全外显子组测序和基因型-表型相关性分析,证实中国某家族患有伴有COL7A1变异的显性营养不良型大疱性表皮松解症。
期刊:Molecular Syndromology
影响因子:0.9
doi:10.1159/000545348
Feng, Xinyu; Liu, Chunmeng; Niu, Wanli; Hu, Yi; Zhen, Qi; Chen, Weiwei; Wang, Yirui; Li, Zhuo; Du, Juan; Guo, Xiaofen; Lv, Mingwei; Zhang, Yu; Han, Yang; Sun, Liangdan