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Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population
BACKGROUND: Genetic testing of UGT1A1 was used to facilitate the diagnosis of Gilbert syndrome, and analyze the distribution features of pathogenic variants in the Chinese population. METHODS: DNA was extracted from whole blood samples of patients with unconjugated hyperbilirubinemia, and sequencing...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9266601/ https://www.ncbi.nlm.nih.gov/pubmed/35426266 http://dx.doi.org/10.1002/mgg3.1958 |