A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations

Autor: Chunwang Li, Penghui Liu, Weilin Huang, Haojie Wang, Ke Ma, Lingyun Zhuo, Yaqing Kang, Qiu He, Yuanxiang Lin, Dezhi Kang, Fuxin Lin
Rok vydání: 2023
Předmět:
Zdroj: neurogenetics. 24:137-146
ISSN: 1364-6753
DOI: 10.1007/s10048-023-00714-y
Databáze: OpenAIRE