位置：成果数据库 > 期刊 > 期刊详情页
Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated super
  • ISSN号：0022-2593
  • 期刊名称：Journal of Medical Genetics
  • 时间：2014.10
  • 页码：699-704
  • 相关项目：外显子测序鉴定进行性对称性红斑角化症的致病基因研究
作者： Sun, Liangdan|Yang, Sen|Cui, Yong|Zhang, Xuejun|
同期刊论文项目
外显子测序鉴定进行性对称性红斑角化症的致病基因研究
期刊论文 10
同项目期刊论文
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis.
Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma pati
Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutati
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplanta