Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis

Citrin deficiency caused by SLC25A13 genetic mutations is an autosomal recessive disease, and four prevalent mutations including c.851_854del, c.1638_1660dup, IVS6+5G>A, and IVS16ins3kb make up >80% of total pathogenic mutations within the Chinese population. However, suitable assays for detec...

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Detalles Bibliográficos
Autores principales: Zeng, Qinlong, Yang, Yingsong, Luo, Jiahong, Xu, Jinmei, Deng, Choufen, Yang, Yuanjuan, Tan, Shuming, Sun, Shuxiang, Li, Yuping, Ou, Tong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8133314/
https://www.ncbi.nlm.nih.gov/pubmed/34026689
http://dx.doi.org/10.3389/fped.2021.654527

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