NL-OMON31326已完成不适用
Biochemical characterisation of TSC1 and TSC2 variants identified in patients with tuberous sclerosis complex - Characterisation of TSC1 and TSC2 variants
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 20
研究概览
简要总结
暂无简介。
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 2 至 99（—）
入选标准
- •Individuals with tuberous sclerosis complex in whom potential splice site mutations have been identified will be asked to provide a skin biopsy.
排除标准
- •Individuals with tuberous sclerosis complex where the routine, diagnostic genetic/DNA analysis has identified the pathogenic mutation.
研究者
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