Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T
- Published on 06/06/2025
- Reading time: 5 min.
Zhang Chuan 1, Yan Yousheng 4, Zhou Bingbo 1, Gao Huimin 4, Jin Xiaohua 2, Hui Ling 1, Hao Shengju 1, Cao Zongfu 2, Ma Xu 2,3
1 https://ror.org/02n9as466 Gansu Province Medical Genetics Center Gansu Provincial Maternity and Child-Care Hospital, Gansu Provincial Central Hospital Lanzhou China
2 https://ror.org/01wq93z70 National Research Institute for Family Planning National Human Genetic Resources Center Beijing China
3 https://ror.org/02drdmm93 Graduate School of Peking Union Medical College Beijing China
4 https://ror.org/013xs5b60 Department of Prenatal Diagnosis, Beijing Obstetrics and Gynecology Hospital, Beijing Maternal and Child Health Care Hospital Capital Medical University Beijing China
Abstract
Background The c.1199 + 502 A > T variant of the phenylalanine hydroxylase (PAH) gene, which is the most frequently reported deep intronic variant involved in phenylketonuria (PKU), is mainly observed in patients with classical or mild PKU. Prior to this study, no mouse models of PKU featuring deep intronic variants of PAH had been reported.
Methods To phenotypically simulate the pathogenicity of this...
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