Xeroderma pigmentosum group D: Report of a novel combination of ERCC 2 ERCC ERCC 2 variations and its phenotype

Hida Tokimasa; Okura Masae; Kobayashi Keiju; Yamashita Toshiharu; Nishigori Chikako; Uhara Hisashi

首页> 外文期刊>The Journal of dermatology >Xeroderma pigmentosum group D: Report of a novel combination of ERCC 2 ERCC ERCC 2 variations and its phenotype

【24h】

Xeroderma pigmentosum group D: Report of a novel combination of ERCC 2 ERCC ERCC 2 variations and its phenotype

机译：Xeroderma pigmentosum组D：ERCC 2 ERCC ERCC 2变异的新组合及其表型

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

著录项
相似文献
相关主题

著录项

来源
《The Journal of dermatology》 |2019年第3期|共2页
作者
Hida Tokimasa; Okura Masae; Kobayashi Keiju; Yamashita Toshiharu; Nishigori Chikako; Uhara Hisashi;
展开▼
作者单位

Department of DermatologySapporo Medical University School of MedicineSapporo Japan;

Department of DermatologySapporo Medical University School of MedicineSapporo Japan;

Department of DermatologySapporo Medical University School of MedicineSapporo Japan;

Department of DermatologySapporo Medical University School of MedicineSapporo Japan;

Division of DermatologyKobe University Graduate School of MedicineKobe Japan;

Department of DermatologySapporo Medical University School of MedicineSapporo Japan;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类皮肤病学与性病学;
关键词

相似文献

外文文献
中文文献
专利

1. Xeroderma pigmentosum group D: Report of a novel combination of ERCC 2 ERCC ERCC 2 variations and its phenotype [J] . Hida Tokimasa, Okura Masae, Kobayashi Keiju, The Journal of dermatology . 2019,第3期

机译：Xeroderma pigmentosum组D：ERCC 2 ERCC ERCC 2变异的新组合及其表型
2. Identification of a ERCC5 c.2333T&C (L778P) Variant in Two Tunisian Siblings With Mild Xeroderma Pigmentosum Phenotype [J] . Asma Chikhaoui, Sahar Elouej, Imen Nabouli, Frontiers in Genetics . 2019,第1期

机译：在两个患有轻度干皮色素表型的突尼斯兄弟姐妹中鉴定ERCC5 c.2333T> C（L778P）变异体
3. Use of hierarchical clustering and principal component analysis for deep phenotyping of patients with mutations in XPD (ERCC2): trichothiodystrophy (TTD), xeroderma pigmentosum (XP) and XP/TTD [J] . Levoska M., Pugh J., Nelson G., The Journal of investigative dermatology. . 2018,第5a19期

机译：XPD（ERCC2）中突变患者深层表型的层次聚类和主要成分分析：Trichothiodystrophy（TTD），Xeroderma Pigmentosum（XP）和XP / TTD
4. Evaluating the impact of sequencing error correction for RNA-seq data with ERCC RNA spike-in controls [C] . Li Tong, Cheng Yang, Po-Yen Wu, IEEE-EMBS International Conference on Biomedical and Health Informatics . 2016

机译：使用ERCC RNA插入对照评估RNA-seq数据的测序错误校正的影响
5. Multiple DNA binding domains mediate the function of ERCC1-XPF in nucleotide excision repair and interstrand crosslink repair. [D] . Su, Yan. 2012

机译：多个DNA结合域介导ERCC1-XPF在核苷酸切除修复和链间交联修复中的功能。
6. Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype [O] . Imen Nabouli, Asma Chikhaoui, Houcemeddine Othman, 2021

机译：案例报告：鉴定两种突尼斯患者的非典型Xeroderma Pigmentosum表型的两个突尼斯患者中的新型变异性和DDB2基因
7. Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype [O] . Imen Nabouli, Asma Chikhaoui, Houcemeddine Othman, 2021

机译：案例报告：鉴定两种突尼斯患者的非典型Xeroderma Pigmentosum表型的两个突尼斯患者中的新型变异性和DDB2基因
8. Recent developments with the human repair genes ERCC2, ERCC4, and XRCC1 [R] . Thompson, L. H., Caldecott, K. W., Brookman, K. W., 1992

机译：人类修复基因ERCC2，ERCC4和XRCC1的最新进展

Xeroderma pigmentosum group D: Report of a novel combination of ERCC 2 ERCC ERCC 2 variations and its phenotype

著录项

相似文献

相关主题

期刊订阅