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本文引用的文献

1
Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa.全外显子组测序在中国一个常染色体显性遗传性视网膜色素变性家族中鉴定出一种新的NRL突变。
Mol Vis. 2016 Mar 18;22:234-42. eCollection 2016.
2
Progress and prospects of next-generation sequencing testing for inherited retinal dystrophy.遗传性视网膜营养不良下一代测序检测的进展与前景
Expert Rev Mol Diagn. 2015;15(10):1269-75. doi: 10.1586/14737159.2015.1081057. Epub 2015 Aug 26.
3
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait.光感受器变性：复杂性状的遗传与机制剖析。
Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
4
Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.bZIP蛋白NRL中的视网膜病变突变会改变磷酸化和转录活性。
Hum Mutat. 2007 Jun;28(6):589-98. doi: 10.1002/humu.20488.
5
The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression.碱性基序-亮氨酸拉链转录因子Nrl可正向调控视紫红质基因的表达。
Proc Natl Acad Sci U S A. 1996 Jan 9;93(1):191-5. doi: 10.1073/pnas.93.1.191.

Identification of a novel NRL mutation in a Chinese family with retinitis pigmentosa by whole-exome sequencing.

作者信息

Qin Y, Liu F, Yu S, Yang L, Gao M, Tang Z, Guo A Y, Zhang M, Li P, Liu M

机构信息

Department of Genetics and Developmental Biology, Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, PR, China.

Department of Bioinformatics and Systems Biology, Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, PR, China.

出版信息

Eye (Lond). 2017 May;31(5):815-817. doi: 10.1038/eye.2016.327. Epub 2017 Jan 20.

DOI:10.1038/eye.2016.327
PMID:28106895
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5437331/
Abstract
摘要