The Mutation Analysis of the AMT Gene in a Chinese Family With Nonketotic Hyperglycinemia

Background: Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of glycine that causes severe and fatal neurological symptoms in the neonatal period. Methods: Genomic DNA was extracted from...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhou, Bing-bo, Hui, Ling, Zhang, Qing-hua, Chen, Xue, Zhang, Chuan, Zheng, Lei, Feng, Xuan, Wang, Yu-pei, Ding, Zhong-jun, Chen, Rui-rong, Ma, Pan-pan, Liu, Fu-rong, Hao, Sheng-ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9133660/
https://www.ncbi.nlm.nih.gov/pubmed/35646099
http://dx.doi.org/10.3389/fgene.2022.854712

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9133660/
https://www.ncbi.nlm.nih.gov/pubmed/35646099
http://dx.doi.org/10.3389/fgene.2022.854712

Ejemplares similares