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首页> Journal of clinical laboratory analysis> Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.

Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.

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第一作者： Guoqing,Zhang

第一单位： Department of Neonatology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.

作者： Guoqing,Zhang ^[1] ; Yulin,Chen ^[2] ; Huiqun,Ju ^[1] ; Fei,Bei ^[1] ; Jing,Li ^[1] ; Jian,Wang ^[3] ; Jianhua,Sun ^[1] ; Jun,Bu ^[1]

作者单位： Department of Neonatology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. ^[1] Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.;Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. ^[2] Department of Medical Genetics, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China. ^[3]

关键词 carbamoyl phosphate synthetase 1 deficiency gene CPS1 molecular diagnosis whole exome sequencing

主题词氨甲酰磷酸合酶(氨)(Carbamoyl-Phosphate Synthase (Ammonia));氨甲酰磷酸合酶Ⅰ缺乏病(Carbamoyl-Phosphate Synthase I Deficiency Disease);女(雌)性(Female);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);模型, 分子(Models, Molecular);分子诊断技术(Molecular Diagnostic Techniques);突变(Mutation)

DOI 10.1002/jcla.22241

PMID 28444906

发布时间 2022-12-07

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Journal of clinical laboratory analysis

Journal of clinical laboratory analysis

2018年32卷2期

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