• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.

作者信息

Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T

出版信息

Nat Genet. 1994 Aug;7(4):551. doi: 10.1038/ng0894-551a.

DOI:10.1038/ng0894-551a
PMID:7951329
Abstract
摘要

相似文献

1
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.常染色体显性静止性夜盲中视杆细胞环磷酸鸟苷磷酸二酯酶β亚基基因的杂合错义突变
Nat Genet. 1994 Aug;7(4):551. doi: 10.1038/ng0894-551a.
2
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness.
Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64.
3
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.p.Gln200Glu，常染色体显性遗传性先天性静止性夜盲中视杆α-转导蛋白（GNAT1）的一种推测的组成型活性突变体。
Hum Mutat. 2007 Jul;28(7):741-2. doi: 10.1002/humu.9499.
4
Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.常染色体隐性遗传性视网膜色素变性中视杆细胞环磷酸鸟苷磷酸二酯酶α亚基编码基因突变的频率
Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1859-65.
5
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.先天性静止性夜盲症努加雷（Nougaret）型中视杆转导蛋白α亚基编码基因的错义突变。
Nat Genet. 1996 Jul;13(3):358-60. doi: 10.1038/ng0796-358.
6
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.常染色体显性先天性静止性夜盲症的基因定位于4号染色体p16.3区域，该区域与视杆光感受器环磷酸鸟苷磷酸二酯酶（PDEB）β亚基的基因相同。
Hum Mol Genet. 1994 Feb;3(2):323-5. doi: 10.1093/hmg/3.2.323.
7
Defective RNA splicing resulting from a mutation in the cyclic guanosine monophosphate-phosphodiesterase beta-subunit gene.环磷酸鸟苷磷酸二酯酶β亚基基因突变导致的RNA剪接缺陷。
Invest Ophthalmol Vis Sci. 1998 Mar;39(3):463-70.
8
Evaluation of the human arrestin gene in patients with retinitis pigmentosa and stationary night blindness.视网膜色素变性和静止性夜盲患者中人类抑制蛋白基因的评估。
Invest Ophthalmol Vis Sci. 1998 Mar;39(3):665-70.
9
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.GRM6基因的突变会导致常染色体隐性先天性静止性夜盲，并伴有特征性的暗视15赫兹闪烁视网膜电图。
Invest Ophthalmol Vis Sci. 2005 Nov;46(11):4328-35. doi: 10.1167/iovs.05-0526.
10
Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.在一个患有常染色体隐性视网膜色素变性的西班牙家族中，视杆细胞磷酸二酯酶基因β亚基第13外显子中一种新型R552O突变的鉴定。
Hum Mutat. 1996;8(4):393-4. doi: 10.1002/humu.1380080403.

引用本文的文献

1
Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.与编码光转导蛋白的基因相关的单基因视网膜疾病：综述
Clin Exp Ophthalmol. 2025 Apr;53(3):260-280. doi: 10.1111/ceo.14511. Epub 2025 Feb 27.
2
Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art.遗传性视网膜疾病的基因治疗：最新技术现状
Front Med (Lausanne). 2021 Oct 15;8:750586. doi: 10.3389/fmed.2021.750586. eCollection 2021.
3
Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.
韩国先天性静止性夜盲症患者的临床和遗传特征。
Genes (Basel). 2021 May 21;12(6):789. doi: 10.3390/genes12060789.
4
Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives.遗传性视网膜疾病治疗进展：早期视网膜下基因治疗临床试验和未来计划的候选药物。
Prog Retin Eye Res. 2020 Jul;77:100827. doi: 10.1016/j.preteyeres.2019.100827. Epub 2019 Dec 30.
5
Genome-wide association study and whole-genome sequencing identify a deletion in LRIT3 associated with canine congenital stationary night blindness.全基因组关联研究和全基因组测序鉴定出与犬先天性静止性夜盲症相关的 LRIT3 缺失。
Sci Rep. 2019 Oct 2;9(1):14166. doi: 10.1038/s41598-019-50573-7.
6
Novel mutations in PDE6B causing human retinitis pigmentosa.导致人类视网膜色素变性的PDE6B基因新突变。
Int J Ophthalmol. 2016 Aug 18;9(8):1094-9. doi: 10.18240/ijo.2016.08.02. eCollection 2016.
7
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.GNB3基因的双等位基因突变导致一种独特形式的常染色体隐性先天性静止性夜盲症。
Am J Hum Genet. 2016 May 5;98(5):1011-1019. doi: 10.1016/j.ajhg.2016.03.021. Epub 2016 Apr 7.
8
Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.视紫红质基因的遗传分析在一名健康个体中鉴定出一种镶嵌型显性视网膜色素变性突变。
Invest Ophthalmol Vis Sci. 2016 Mar;57(3):940-7. doi: 10.1167/iovs.15-18702.
9
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.在患有先天性静止性夜盲症的巴基斯坦近亲家庭中鉴定出的GRM6基因突变。
Mol Vis. 2015 Oct 31;21:1261-71. eCollection 2015.
10
A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.一种带有突变型Slc24a1的静止性夜盲症小鼠新模型解释了相关人类疾病的病理生理学。
Hum Mol Genet. 2015 Oct 15;24(20):5915-29. doi: 10.1093/hmg/ddv319. Epub 2015 Aug 5.