Rapid Genetic Diagnosis of Citrin Deficiency by Multicolor Melting Curve Analysis

• Main Authors: Qinlong Zeng (Author), Yingsong Yang (Author), Jiahong Luo (Author), Jinmei Xu (Author), Choufen Deng (Author), Yuanjuan Yang (Author), Shuming Tan (Author), Shuxiang Sun (Author), Yuping Li (Author), Tong Ou (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...