Identification of Novel Mutations in Chinese Infants With Citrullinemia

Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are caused by argininosuccinate synthase 1 (ASS1), and citrin (SLC25A13) gene...

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Detalles Bibliográficos
Autores principales: Cheng, Zhi, He, Xiwen, Zou, Fa, Xu, Zhen-E, Li, Chun, Liu, Hao, Miao, Jingkun
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/PMC8929347/
https://www.ncbi.nlm.nih.gov/pubmed/35309121
http://dx.doi.org/10.3389/fgene.2022.783799

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929347/
https://www.ncbi.nlm.nih.gov/pubmed/35309121
http://dx.doi.org/10.3389/fgene.2022.783799

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