Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T
This construction of the first humanized mice carrying a deep intronic variant of PAH provides a new animal model for the pathogenesis and treatment of PKU, and may serve as a reference for future research on the pathogenicity of deep intronic variation.
Authors
- Xiaohua Jin (ORCID: https://orcid.org/0000-0001-9249-7496)
- Zongfu Cao (ORCID: https://orcid.org/0000-0002-9707-8765)
- Bingbo Zhou (ORCID: https://orcid.org/0000-0001-8456-9410)
- Yousheng Yan (ORCID: https://orcid.org/0000-0002-0405-1302)
- Chuan Zhang (ORCID: https://orcid.org/0000-0002-4403-4830)
- Shengju Hao
- Xu Ma (ORCID: https://orcid.org/0000-0002-6070-0987)
- Ling Hui
- Huimin Gao (ORCID: https://orcid.org/0000-0002-2057-7339)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking Union Medical College Hospital (CN)
- Genetic Resources Center (JP)
- Gansu Provincial Maternal and Child Health Hospital (CN)
- Beijing Obstetrics and Gynecology Hospital (CN)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-05-26
- DOI
- https://doi.org/10.1186/s13023-025-03800-6
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Key Research and Development Program of China