黑色素瘤靶向治疗原理
题名: 黑色素瘤靶向治疗原理
摘要: Over the past decade, there has been significant advancement in the understanding of the pathophysiology of melanoma. These advancements have led to the systematic development of new effective therapies for advanced disease in the form of molecularly targeted therapy and immunotherapy. Randomized tr...

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白化病
关键词:白化病

白化病最新文献

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misroutin...2014.04.22
Foveal hypoplasia and optic nerve misrouting are developmental defects of the visual pathway and only co-occur in connection with albinism; to date, they have only been associated with defects in the melanin-biosynthesis pathway. Here,...
Oculocutaneous Albinism2014.04.22
A s residents, we can all relate to the eureka moment when a patient with a condition we have studied but have never seen in practice is standing in front of us. All of the memorized snippets, word associations, and Kodachrome images p...
DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current ...2014.04.22
眼皮肤白化病中DNA的变异:突变列表和当前分子诊断中突出问题的一则更新
Oculocutaneous albinism (OCA)is a rare genetic disorder of melanin synthesis that results in hypopigmented hair,skin, and eyes. There are four types of OCA caused by mutations in TYR (OCA-1), OCA2 (OCA-2), TYRP1 (OCA-3), or SLC45A2 (OC...

眼皮肤白化病患者的TYR基因突变类型初步研究2014.04.22
目的:对临床诊断为眼皮肤白化病(OCA)患者的7豫基因进行突变筛查,以了解我国大陆0CA患者 TYR 基因突变类型。方法:应用PcR技术扩增患者及其父母的7豫基因外显子、外显子一内含子交界区及启动子区,以DNA序列测定技术进行突变筛查与鉴定。结果:在8名患者...