Genes and Diseases (Nov 2024)
A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops
- Wei Hou,
- Guifang Huang,
- Hongyu Wei,
- Wenwei Li,
- Houfeng Huang,
- Yuling Qiu,
- Hengying Zhu,
- Huifeng Han,
- Ping Chen,
- Xue Zhang
Affiliations
- Wei Hou
- Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry, Guangxi Medical University, Nanning, Guangxi 530021, China; NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China
- Guifang Huang
- Department of Eugenic Genetics, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China
- Hongyu Wei
- Department of Organic Chemistry and Medicinal Chemistry, Pharmaceutical College, Guangxi Medical University, Nanning, Guangxi 530021, China
- Wenwei Li
- NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China
- Houfeng Huang
- Department of Ultrasound Imaging, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China
- Yuling Qiu
- NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China
- Hengying Zhu
- NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China
- Huifeng Han
- Department of Bioinformatics, Berry Genomics Co., Ltd., Beijing 102206, China
- Ping Chen
- NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China; Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China; Corresponding author. Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China.
- Xue Zhang
- Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry, Guangxi Medical University, Nanning, Guangxi 530021, China; McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100730, China; Corresponding author. Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry, Guangxi Medical University, Nanning, Guangxi 530021, China.
- Journal volume & issue
-
Vol. 11,
no. 6
p. 101375