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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...

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Detalles Bibliográficos
Autores principales: Gu, Leilei, Han, Yue, Zhang, Donghua, Gong, Qiming, Zhang, Xinxin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
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