Associated Papers
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.
Liu J et al.
Frontiers in Genetics, 2023
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.
Xiong M et al.
Frontiers in Pediatrics, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin Y et al.
Bmc Medical Genetics, 2019
[Genetic analysis of ASS1, ASL and SLC25A13 in citrullinemia patients].
Wen P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
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