Mei Zhao Lingling Hou Huajing Teng Jinchen Li Jiesi Wang Kunlin Zhang Lin Yang
10.1155/2019/3530198
Biomed Res Int
2019 Apr 30;2019:3530198.
CC BY
https://pubmed.ncbi.nlm.nih.gov/31183366/
Argininosuccinate Lyase / genetics Argininosuccinate Lyase / metabolism Argininosuccinic Aciduria / enzymology Argininosuccinic Aciduria / genetics Exome Sequencing Heterozygote Mutation, Missense
Argininosuccinate Lyase / genetics Argininosuccinate Lyase / metabolism Argininosuccinic Aciduria / enzymology Argininosuccinic Aciduria / genetics Exome Sequencing Heterozygote Mutation, Missense Case Reports Amino Acid Substitution Citrulline / blood Citrulline / genetics HEK293 Cells Humans Infant Male Citrulline Argininosuccinate Lyase
PMC6515145
31183366
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency
2019