Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease
The duration between initial clinical presentation and diagnosis remains long and winding. CAFD provides precise diagnosis for a wide spectrum of GLA variants, promoting timely diagnosis and appropriate treatment for FD patients.
Authors
- Dan‐Hua Li (ORCID: https://orcid.org/0000-0001-8521-2851)
- Jingwen Zhou (ORCID: https://orcid.org/0000-0002-3949-3733)
- Zhengqing Qiu (ORCID: https://orcid.org/0000-0002-2653-7485)
- Juntao Liu (ORCID: https://orcid.org/0000-0001-9978-7031)
- Aiping Mao (ORCID: https://orcid.org/0000-0002-3260-8737)
- Wanli Meng
- Weimin Zhang (ORCID: https://orcid.org/0000-0002-0458-9719)
- Na Hao (ORCID: https://orcid.org/0000-0002-7389-9825)
- Fengxia Yao
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Berry Oncology (China) (CN)
Publication Details
- Journal
- Human Genomics
- Published
- 2024-11-28
- DOI
- https://doi.org/10.1186/s40246-024-00697-3
- Citations
- 8
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 2.61
Funders
- Chinese Academy of Medical Sciences
- Peking Union Medical College Hospital
- Peking Union Medical College