Article
Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease.
Human genomics - 28 Nov 2024
Yao Fengxia, Hao Na, Li Danhua, Zhang Weimin, Zhou Jingwen, Qiu Zhengqing, Mao Aiping, Meng Wanli, Liu Juntao
Abstract excerpt
BACKGROUND: The clinical diagnosis of Fabry Disease (FD) can be challenging due to the clinical heterogeneity, especially in females. Patients with FD often experience a prolonged interval between the onset of symptoms and receiving a diagnosis. Genetic testing is the gold standard for precise diagnosis of FD, however conventional genetic testing could miss deep intronic variants and large deletions or...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.