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

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 bloo...

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Detalles Bibliográficos
Autores principales: Li, Lulu, Ma, Li, Sun, Min, Jiao, Jiancheng, Zhang, Yudong, Tang, Yue, Yang, Nan, Kong, Yuanyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438714/
https://www.ncbi.nlm.nih.gov/pubmed/32903656
http://dx.doi.org/10.3389/fped.2020.00443

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7438714/
https://www.ncbi.nlm.nih.gov/pubmed/32903656
http://dx.doi.org/10.3389/fped.2020.00443

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