High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

• Main Authors: Lulu Li (Author), Li Ma (Author), Min Sun (Author), Jiancheng Jiao (Author), Yudong Zhang (Author), Yue Tang (Author), Nan Yang (Author), Yuanyuan Kong (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. This study aim to identify pathogenic mutations underlying classic galactosemia in two Chinese families.Methods: We collected blood...