A NOVEL HETEROZYGOUS DE NOVO 7BP FRAMESHIFT DELETION IN PBX1 CAUSING BILATERAL DYSPLASTIC KIDNEYS AND HYPOPLASTIC CLAVICLES IDENTIFIED BY WHOLE-EXOME SEQUENCING

Riedhammer Korbinian; Siegel Corinna; Alhaddad Bader; Kovacs-nagy Reka; Wagner Matias; Montoya Carmen; Meitinger Thomas; Hoefele Julia

首页> 外文期刊>Pediatric nephrology: journal of the International Pediatric Nephrology Association >A NOVEL HETEROZYGOUS DE NOVO 7BP FRAMESHIFT DELETION IN PBX1 CAUSING BILATERAL DYSPLASTIC KIDNEYS AND HYPOPLASTIC CLAVICLES IDENTIFIED BY WHOLE-EXOME SEQUENCING

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A NOVEL HETEROZYGOUS DE NOVO 7BP FRAMESHIFT DELETION IN PBX1 CAUSING BILATERAL DYSPLASTIC KIDNEYS AND HYPOPLASTIC CLAVICLES IDENTIFIED BY WHOLE-EXOME SEQUENCING

机译：PBX1中的一种新型杂合子DE NOVO 7BP框架缺失，导致通过全外壳测序鉴定的双侧消化性肾脏和囊泡克拉夫汇率

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来源
《Pediatric nephrology: journal of the International Pediatric Nephrology Association》 |2017年第9期|共1页
作者
Riedhammer Korbinian; Siegel Corinna; Alhaddad Bader; Kovacs-nagy Reka; Wagner Matias; Montoya Carmen; Meitinger Thomas; Hoefele Julia;
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作者单位

Tech Univ Munich Dept Nephrol Klinikum Rechts Isar Munich Germany;

Tech Univ Munich Inst Human Genet Klinikum Rechts Isar Munich Germany;

Tech Univ Munich Inst Human Genet Klinikum Rechts Isar Munich Germany;

Tech Univ Munich Inst Human Genet Klinikum Rechts Isar Munich Germany;

Tech Univ Munich Inst Human Genet Klinikum Rechts Isar Munich Germany;

Univ Childrens Hosp MUnchen Schwabing Kfh Ctr Pediat Nephrol Munich Germany;

Tech Univ Munich Inst Human Genet Klinikum Rechts Isar Munich Germany;

Tech Univ Munich Inst Human Genet Klinikum Rechts Isar Munich Germany;

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正文语种 eng
中图分类儿科学;
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1. A NOVEL HETEROZYGOUS DE NOVO 7BP FRAMESHIFT DELETION IN PBX1 CAUSING BILATERAL DYSPLASTIC KIDNEYS AND HYPOPLASTIC CLAVICLES IDENTIFIED BY WHOLE-EXOME SEQUENCING [J] . Riedhammer Korbinian, Siegel Corinna, Alhaddad Bader, Pediatric nephrology: journal of the International Pediatric Nephrology Association . 2017,第9期

机译：PBX1中的一种新型杂合子DE NOVO 7BP框架缺失，导致通过全外壳测序鉴定的双侧消化性肾脏和囊泡克拉夫汇率
2. A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing [J] . Fengchang Qiao, Chen Wang, Chunyu Luo, Molecular Genetics & Genomic Medicine . 2019,第9期

机译：在BCL11B中鉴定的DE Novo杂合的框架突变通过整体exome测序引起神经发育障碍
3. Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report [J] . Xianqing Li, Zongzhe Li, Peng Chen, BMC Medical Genetics . 2020,第1期

机译：全末端测序鉴定了一种DE Novo PDE3A变体，导致血糖型e综合征的常染色体显性高血压：案例报告
4. A Bioinformatics Procedure to Identify and Annotate Somatic Mutations in Whole-Exome Sequencing Data [C] . Roberta Spinelli, Rocco Piazza, Alessandra Pirola, International meeting on computational intelligence methods for bioinformatics and biostatistics . 2012

机译：在整个外显子组测序数据中识别和注释体细胞突变的生物信息学程序
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles [O] . Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, 2017

机译：PBX1的新型杂合子从头确定的7 bp移码删除的全外显子测序导致多器官综合症包括双边发育不良的肾脏和发育不良的锁骨。
7. Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles [O] . Korbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, 2017

机译：通过全外显子组测序鉴定pBX1中的新杂合De Novo 7-bp移码缺失导致多器官综合征，包括双侧发育不良肾和骨质增生性锁骨

A NOVEL HETEROZYGOUS DE NOVO 7BP FRAMESHIFT DELETION IN PBX1 CAUSING BILATERAL DYSPLASTIC KIDNEYS AND HYPOPLASTIC CLAVICLES IDENTIFIED BY WHOLE-EXOME SEQUENCING

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