NATURAL HISTORY OF SYMPTOMATIC MENKES SYNDROME HETEROZYGOSITY

有症状门克斯综合征杂合性的自然史

• 批准号: 6308579
• 负责人: SEYMOUR PACKMAN
• 金额: $ 1.75万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-12-01 至 2000-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6308579
• 关键词: Menkes' syndrome; child (0-11); clinical research; family genetics; human subject; pathologic process

This study will test the hypothesis that a fraction of heterozygotes in Menkes disease may exhibit predominantly connective tissue or central nervous system manifestations of varying severity in some relationship to the molecular lesion segregating in the family.

这项研究将检验这一假设，即在Menkes病中，部分杂合子可能表现出不同严重程度的主要结缔组织或中枢神经系统症状，这与该家族中分离的分子病变有一定关系。