Olmsted综合征临床表型与基因型关系研究

81201220
2012
H12.皮肤病学
林志淼
青年科学基金项目
主任医师
北京大学
23万元
瞬时受体电位通道V3亚型;基因型;Olmsted综合征;表现型;电生理
2013-01-01到2015-12-31
  • 中英文摘要
  • 结题摘要
  • 结题报告
  • 项目成果
  • 项目参与人
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序号 标题 类型 作者
1 Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type 期刊论文 Zhang, J.|Jiang, H.|Lin, Z.|Yang, Y.|
2 A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family 期刊论文 Lin, Z. M.|Zhang, J.|Yin, J. H.|Yang, Y.|
3 New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with Nagashima-Type Palmoplantar Keratosis 期刊论文 Cao, Xu|Tang, Zhanli|Lin, Zhimiao|Yang, Yong|
4 Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis and Knuckle Pads. 期刊论文 Xu, X.|O'Toole, E. A.|Kelsell, D. P.|Yang, Y.|
5 A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family 期刊论文 Ren, Y. L.|Zhang, J.|Li, R. Y.|Yang, Y.|
6 ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genito-urinary Involvement 期刊论文 Wang, H.|Zhang, J.|Lin, Z.|Yang, Y.|
7 Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA. 期刊论文 Hua, H.|Liu, H.W.|Lin, Z.M.|Yang, Y.|
8 Compound heterozygous PLEC mutations in a patient of consanguineous parentage with epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia. 期刊论文 Lin, Z.|Wang, H.|Zhou, Y.|Yang, Y.|
9 Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome 期刊论文 Zhou, E. Y.|Yin, J.|Xu, G.|Yang, Y.|
10 Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient 期刊论文 Lin, Z. M.|Dai, L. L.|Chen, Q.|Yang, Y.|
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