The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)

BACKGROUND: Hereditary tyrosinemia type 1 (HT1) is a rare inherited metabolic disease characterized by severe liver and renal dysfunction. Early identification in affected children is critical for improved treatment options and prognosis. METHODS: In this study, we identified novel compound heterozy...

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Detalles Bibliográficos
Autores principales: Chi, Huan, Gan, Chun, Jiang, Yaru, Chen, Dan, Qiu, Jiawen, Yang, Qing, Chen, Yaxi, Wang, Mo, Yang, Haiping, Jiang, Wei, Li, Qiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834193/
https://www.ncbi.nlm.nih.gov/pubmed/36369907
http://dx.doi.org/10.1002/mgg3.2090

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