Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta
Our study expands the spectrum of GNPTAB gene in China. Mutation c.2715 + 1G > A was the most prevalent mutation in our study. The novel mutation c.1284 + 1G > A might be a severe mutation associated with ML II.
Authors
- Xi Yin (ORCID: https://orcid.org/0000-0003-2169-7823)
- Xiaoyuan Zhao (ORCID: https://orcid.org/0000-0002-8628-2023)
- Liu Li (ORCID: https://orcid.org/0000-0002-9746-0067)
- Wen Zhang (ORCID: https://orcid.org/0000-0003-2293-099X)
- Xueying Su
- Huiying Sheng (ORCID: https://orcid.org/0000-0003-4726-9974)
- Yonglan Huang (ORCID: https://orcid.org/0000-0002-7527-3754)
- Yuyu Feng
Institutions
- Guangzhou Women and Children Medical Center (CN)
- Guangzhou Medical University (CN)
Publication Details
- Journal
- BMC Pediatrics
- Published
- 2024-12-23
- DOI
- https://doi.org/10.1186/s12887-024-05223-x
- Citations
- 1
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.33
Funders
- Natural Science Foundation of Guangdong Province
- Guangzhou Municipal Science and Technology Project