GENETIC CHARACTERIZATION ALPORT SYNDROME

阿尔波特综合征的遗传特征

• 批准号: 3740690
• 负责人: CURTIS L ATKIN
• 金额: --
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3740690
• 关键词: congenital deafness; congenital kidney disorder; ear disorder; epidemiology; eye disorder; family genetics; genetic disorder; heart disorder; human subject; kidney function; sign /symptom

This study has two aims: 1) to develop and compare the value and practicability of five methods for measuring subclinical renal dysfunction and 2) to evaluate the prevalence of auditory, ocular and cardiac abnormalities in Utah kindreds with Alport syndrome.

本研究有两个目的：1）开发和比较价值和 五种亚临床肾功能测量方法的实用性 功能障碍和 2) 评估听觉、视觉和视觉功能障碍的患病率 犹他州阿尔波特综合征家族的心脏异常。