The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot
Brain
.
2022 Dec 19;145(12):e122-e124.
doi: 10.1093/brain/awac314.
Authors
Huifang Yan
1
2
3
,
Thomas Kubisiak
2
,
Kai Gao
1
,
Jiangxi Xiao
4
,
Junyu Wang
1
,
Yu Zhang
1
,
Ye Wu
1
,
Yuwu Jiang
1
5
,
Margit Burmeister
2
6
7
,
Jingmin Wang
1
3
5
Affiliations
1
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
2
Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.
3
Joint International Research Center of Translational and Clinical Research, Peking University Health Science Center, Beijing 100191, China.
4
Department of Radiology, Peking University First Hospital, Beijing 100034, China.
5
Key Laboratory for Neuroscience, Ministry of Education/National Health and Family Planning Commission, Peking University, Beijing, China.
6
Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.
7
Department of Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA.
PMID:
36083980
DOI:
10.1093/brain/awac314
No abstract available
Publication types
Research Support, Non-U.S. Gov't
Comment
MeSH terms
China
Humans
Mutation
Ubiquitin-Protein Ligases* / genetics
Substances
Ubiquitin-Protein Ligases
Grants and funding
BMU2019JI009/UMHS-PUHSC Joint Institute for Translational and Clinical Research
82071264/National Natural Science Foundation of China
7214256/Natural Science Foundation of Beijing, China
Z0317/Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases