The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2019, v. 32, n. 4, p. 375, doi. 10.1515/jpem-2018-0263
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- Publication type:
- Article
Works by Li, Xiao-Qiao
Results: 2
1
2
A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 391, doi. 10.1002/humu.21648
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- Publication type:
- Article