Lulu Li Li Ma Min Sun Jiancheng Jiao Yudong Zhang Yue Tang Nan Yang Yuanyuan Kong
10.3389/fped.2020.00443
Front Pediatr
2020 Aug 5;8:443.
chinese patient gatl autosomal recessive (ar) classical galactosemia (cg) gene mutation hepatomegaly high-throughput sequencing mutation spectrum
CC BY
https://pubmed.ncbi.nlm.nih.gov/32903656/
Case Reports
PMC7438714
32903656
High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia
2020