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

• Asıl Yazarlar: Lulu Li (Yazar), Li Ma (Yazar), Min Sun (Yazar), Jiancheng Jiao (Yazar), Yudong Zhang (Yazar), Yue Tang (Yazar), Nan Yang (Yazar), Yuanyuan Kong (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2020-08-01T00:00:00Z.
• Konular: article
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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...