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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 2, 2023. (Total: 223599Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Citrullinemia and ASS1[original query]
Molecular epidemiology of citrullinemia type I in a risk region of Argentina: a first step to preconception heterozygote detection.
JIMD reports 2012 6 27-9.
Laróvere Laura E, Ruiz Silene M Silvera, Angaroni Celia J, de Kremer Raquel Dodels
[Mutational analysis of ASS1, ASL and SLC25A13 genes in six Chinese patients with citrullinemia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017 Oct 34 (5): 676-679.
Lin Yiming, Yu Ke, Li Lufeng, Zheng Zhenzhu, Lin Weihua, Fu Qingl
Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil.
Genetics and molecular biology 2020 7 43 (3): 20190298.
Randon Dévora N, Sperb-Ludwig Fernanda, Vianna Fernanda S L, Becker Ana P P, Vargas Carmen R, Sitta Angela, Sant'Ana Alexia N, Schwartz Ida V D, Bitencourt Fernanda H
Clinical, laboratory data and outcomes of 17 Iranian citrullinemia type 1 patients: Identification of five novel ASS1 gene mutations.
JIMD reports 2022 4 63 (3): 231-239.
Moarefian Shirin, Zamani Mahdi, Rahmanifar Ali, Behnam Babak, Zaman Tali
[Clinical and ASS1 gene variant analysis of three Chinese pedigrees affected with Citrullinemia type I].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 10 40 (11): 1345-1349.
Rui Dong, Kaihui Zhang, Hui Guo, Guangye Zhang, Yuqiang Lyu, Min Gao, Zhongtao Gai, Yi L
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