Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects

机译：针对SLC2A9和SLC22A12的扩增子靶向重测序确定了低尿酸血症受试者的新突变

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BackgroundTo identify potential causative mutations in SLC2A9 and SLC22A12 that lead to hypouricemia or hyperuricemia (HUA).

机译：背景为了确定SLC2A9和SLC22A12中导致低尿酸血症或高尿酸血症（HUA）的潜在原因突变。

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期刊名称 Molecular Genetics Genomic Medicine
作者
Zhaowei Zhou; Ke Wang; Juan Zhou; Can Wang; Xinde Li; Lingling Cui; Lin Han; Zhen Liu; Wei Ren; Xuefeng Wang; Keke Zhang; Zhiqiang Li; Dun Pan; Changgui Li; Yongyong Shi;
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作者单位

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年(卷),期 2019(7),7
年度 2019
页码 e00722
总页数 14
原文格式 PDF
正文语种
中图分类遗传学;
关键词
hypouricemia next‐generation sequencing (NGS) rare variants SLC22A12 SLC2A9;

机译：低尿酸血症;下一代测序（NGS）;罕见变体;SLC22A12;SLC2A9;

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专利

1. Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects [J] . Zhaowei Zhou, Ke Wang, Juan Zhou, Molecular Genetics & Genomic Medicine . 2019,第7期

机译：SLC2A9和SLC22A12的扩增子靶向RESERERENCENTED在短血症受试者中鉴定了新的突变
2. SLC22A12 and SLC2A9 mutations in Spanish patients with renal hypouricemia [J] . Trujillo-Suarez J., Gonzalez-Acosta H., Martin-Gomez M. A., Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2018,第4期

机译：SLC22A12和SLC2A9在西班牙肾脏血症患者中突变
3. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome [J] . Xu Xiaojing, Yang Xiaoxu, Wu Qixi, Human mutation . 2015,第9期

机译：扩增亲子鉴定的亲子马赛克的约10％的德拉韦综合征儿童“从头” SCN1A突变
4. Detecting Rare Mutations in Cell-Free DNA by Integrating an Ultrafast Amplicon-Based Targeted Library Preparation Method with Double-Stranded Unique Molecular Identifiers [C] . Yang Lily Liu International Molecular Medicine Tri-Conference. . 2019

机译：通过与双链独特的分子标识符集成超速率扩增子靶向文库制备方法，通过与双链独特的分子标识符进行整合来检测无细胞DNA的罕见突变
5. Evolve and Resequencing (E & R) of Toxoplasma Gondii During Lab-Adaptation to Identify Virulence Factors [D] . Primo, Vincent. 2020

机译：在实验室适应期间，在实验室适应期间进化和重新排序（E＆R）弓形虫，以识别毒力因子
6. Amplicon Resequencing Identified Parental Mosaicism for Approximately 10 of de novo SCN1A Mutations in Children with Dravet Syndrome [O] . Xiaojing Xu, Xiaoxu Yang, Qixi Wu, -1

机译：对德拉韦综合征儿童的 de novo SCN1A突变进行约10％亲本镶嵌的扩增子重测序
7. COLD-PCR Enrichment of Rare Cancer Mutations prior to Targeted Amplicon Resequencing [O] . Coren A Milbury, Mick Correll, John Quackenbush, 2012

机译：在靶向扩增子RESERENCONING之前的冷PCR富集稀有癌突变

Amplicon targeted resequencing for SLC2A9 and SLC22A12 identified novel mutations in hypouricemia subjects

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