Asymptomatic ASS1 carriers with high blood citrulline levels.

Hui-An ChenRai-Hseng HsuKai-Ling ChangYi-Chen HuangYun-Chen ChiangNi-Chung LeeWuh-Liang HwuPao-Chin ChiuYin-Hsiu Chien

Published in: Molecular genetics & genomic medicine (2022)

Heterozygote ASS1 variants may lead to a mild elevation of blood citrulline levels: about 2-6 times the population mean. Molecular testing and family studies remain critical for precise diagnosis, genetic counseling, and management.

Keyphrases

copy number
genome wide
smoking cessation
gene expression
hiv testing