Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis

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 f...

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Bibliographic Details
Main Authors: Qinlong Zeng, Yingsong Yang, Jiahong Luo, Jinmei Xu, Choufen Deng, Yuanjuan Yang, Shuming Tan, Shuxiang Sun, Yuping Li, Tong Ou
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Pediatrics
Subjects:
citrin deficiency
SLC25A13
multicolor melting curve analysis
rapid genetic diagnosis
newborn screening
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2021.654527/full

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https://www.frontiersin.org/articles/10.3389/fped.2021.654527/full

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