Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

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作者： Chen-Han Wilfred,Wu ^[1] ; Jad,Badreddine ^[2] ; Joshua,Chang ^[2] ; Yu-Ren Mike,Huang ^[2] ; Fernando J,Kim ^[3] ; Trevor,Wild ^[3] ; Anne Chun-Hui,Tsai ^[4] ; Naomi,Meeks ^[5] ; Rodrigo,Donalisio Da Silva ^[3] ; Wilson R,Molina ^[6] ; Fredrick R,Schumacher ^[7]

作者单位： Department of Genetics and Genome Sciences, Department of Urology, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA. wilfred.wu@case.edu. ^[1] Department of Genetics and Genome Sciences, Department of Urology, Case Western Reserve University School of Medicine and University Hospitals, Cleveland, OH, USA. ^[2] Division of Urology, Department of Surgery, University of Colorado School of Medicine, Aurora, CO, USA. ^[3] Section of Genetics, Department of Pediatrics, University of Illinois Chicago, Chicago, IL, USA. ^[4] Division of Clinical Genetics and Metabolism, Department of Pediatrics, Children's Hospital Colorado, University of Colorado, Aurora, CO, USA. ^[5] Department of Urology, School of Medicine, University of Kansas, Kansas City, KS, USA. ^[6] Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA. ^[7]

关键词 Biochemical genetics Genetics Nephrolithiasis Population genetics Urogenetics Urolithiasis

主题词人类(Humans);氨基酸转运系统, 碱性(Amino Acid Transport Systems, Basic);胱氨酸(Cystine);胱氨酸尿症(Cystinuria);基因频率(Gene Frequency);遗传学, 群体(Genetics, Population);突变(Mutation)

DOI 10.1007/s00240-023-01473-z

PMID 37561200

发布时间 2023-11-27

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Urolithiasis

2023年51卷1期

101页

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Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

Urolithiasis

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Urolithiasis

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Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

Urolithiasis

相似文献

Urolithiasis

相关期刊

检索历史清除