通过全外显子组测序分析和生物信息学预测鉴定的与肾性低尿酸血症相关的新 SLC22A12 ( URAT1 ) 变体。
关键词: SLC22A12 SLC2A9 glucose transporter 9 mutation rare disease renal hypouricemia urate transport 1 whole-exome sequence analysis
Mesh : Male Humans Exome Sequencing Uric Acid Renal Tubular Transport, Inborn Errors / genetics Computational Biology Rare Diseases Organic Anion Transporters / genetics Organic Cation Transport Proteins / genetics Glucose Transport Proteins, Facilitative / genetics
来 源:
DOI:10.3390/genes14091823
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