晚期发生的COL4A1突变与反复发生的缺血性和出血性中风
Jenny J Lee1, Smit Patel, Jason D Hinman
1Department of Neurology, David Geffen School of Medicine at UCLA, Los Angeles, CA.
The neurologist
|August 15, 2023
概括
这项研究报告了一例罕见的COL4A1相关大脑血管疾病晚发病例,该病例发生在一名64岁的男性身上. 这些发现突出了COL4A1基因中一种新的Alu插入突变,扩大了已知的白细胞大脑病变的遗传原因.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 第四类原基因 COL4A1 的突变与自身主导性脑血管疾病有关.
- COL4A1遗传综合征通常在儿童期表现出来,在诊断晚发病例时存在挑战.
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