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

• मुख्य लेखकों: Lulu Li (लेखक), Li Ma (लेखक), Min Sun (लेखक), Jiancheng Jiao (लेखक), Yudong Zhang (लेखक), Yue Tang (लेखक), Nan Yang (लेखक), Yuanyuan Kong (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2020-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...