• 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

Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.

作者信息

Artlich A, Horn M, Lorenz B, Bhattacharga S, Gal A

出版信息

Am J Hum Genet. 1992 Apr;50(4):876-8.

PMID:1550134
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682649/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/4616c1614c91/ajhg00075-0220-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/a304c368828f/ajhg00075-0220-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/11104cebd2d4/ajhg00075-0220-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/4616c1614c91/ajhg00075-0220-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/a304c368828f/ajhg00075-0220-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/11104cebd2d4/ajhg00075-0220-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1768/1682649/4616c1614c91/ajhg00075-0220-c.jpg

相似文献

1
Recurrent 3-bp deletion at codon 255/256 of the rhodopsin gene in a German pedigree with autosomal dominant retinitis pigmentosa.在一个患有常染色体显性遗传性视网膜色素变性的德系家族中，视紫红质基因第255/256密码子处出现复发性3碱基对缺失。
Am J Hum Genet. 1992 Apr;50(4):876-8.
2
Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.常染色体显性遗传性扇形视网膜色素变性。两个家族的视紫红质第23密码子发生颠换突变。
Arch Ophthalmol. 1991 Jan;109(1):84-91. doi: 10.1001/archopht.1991.01080010086038.
3
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.一个常染色体显性遗传性视网膜色素变性家族中视紫红质基因的3个碱基对缺失。
Am J Hum Genet. 1991 Jan;48(1):26-30.
4
Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.常染色体显性遗传性视网膜色素变性：欧洲家系中视紫红质脯氨酸-组氨酸替代（密码子23）缺失。
Am J Hum Genet. 1990 Dec;47(6):941-5.
5
Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).在患有常染色体显性遗传性视网膜色素变性（ADRP）的日本家族中发现的视紫红质基因点突变。
Jpn J Hum Genet. 1992 Jun;37(2):125-32. doi: 10.1007/BF01899733.
6
A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.常染色体显性遗传性视网膜色素变性中一种新的第15密码子视紫红质基因突变与扇形病变相关。
Arch Ophthalmol. 1993 Nov;111(11):1512-7. doi: 10.1001/archopht.1993.01090110078029.
7
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性患者视紫红质基因的突变
N Engl J Med. 1990 Nov 8;323(19):1302-7. doi: 10.1056/NEJM199011083231903.
8
A 150 bp insertion in the rhodopsin gene of an autosomal dominant retinitis pigmentosa family.
Hum Mol Genet. 1994 Jan;3(1):205-6. doi: 10.1093/hmg/3.1.205.
9
Rhodopsin gene codon 106 mutation (Gly-to-Arg) in a Japanese family with autosomal dominant retinitis pigmentosa.一个患有常染色体显性遗传性视网膜色素变性的日本家族中视紫红质基因密码子106突变（甘氨酸突变为精氨酸）
Jpn J Ophthalmol. 2000 Nov-Dec;44(6):610-4. doi: 10.1016/s0021-5155(00)00286-0.
10
[Identification of Arg-135-Leu mutation in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa].[一个常染色体显性遗传性视网膜色素变性家族中视紫红质基因Arg-135-Leu突变的鉴定]
Med Clin (Barc). 1996 Feb 17;106(6):219-21.

引用本文的文献

1
Mutant dominant-negative causes protein aggregates degraded via ERAD and prevents normal rhodopsin from proper membrane trafficking.突变型显性负性蛋白导致蛋白质聚集体通过内质网相关降解途径被降解，并阻止正常视紫红质进行正确的膜运输。
Front Mol Biosci. 2024 May 17;11:1369000. doi: 10.3389/fmolb.2024.1369000. eCollection 2024.
2
Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.鉴定导致色素性视网膜炎的新型视紫红质突变：对视紫红质结构和功能的影响
Am J Hum Genet. 1993 Jul;53(1):80-9.
3
Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

本文引用的文献

1
Slipped-strand mispairing: a major mechanism for DNA sequence evolution.滑脱链错配：DNA序列进化的主要机制
Mol Biol Evol. 1987 May;4(3):203-21. doi: 10.1093/oxfordjournals.molbev.a040442.
2
Molecular characterization of a spontaneously generated new allele at a VNTR locus: no exchange of flanking DNA sequence.一个可变数目串联重复序列（VNTR）位点自发产生的新等位基因的分子特征：侧翼DNA序列无交换。
Genomics. 1988 Nov;3(4):347-51. doi: 10.1016/0888-7543(88)90126-7.
3
Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.
遗传性眼病基因图谱的最新进展：视网膜、脉络膜和玻璃体的原发性遗传性疾病
J Med Genet. 1994 Dec;31(12):903-15. doi: 10.1136/jmg.31.12.903.
可通过聚合酶链反应进行分型的大量人类DNA多态性类别。
Am J Hum Genet. 1989 Mar;44(3):388-96.
4
Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.常染色体显性遗传性视网膜色素变性患者视紫红质基因的突变
N Engl J Med. 1990 Nov 8;323(19):1302-7. doi: 10.1056/NEJM199011083231903.
5
Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels.
Trends Genet. 1991 Jan;7(1):5. doi: 10.1016/0168-9525(91)90004-a.
6
A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.一个常染色体显性遗传性视网膜色素变性家族中视紫红质基因的3个碱基对缺失。
Am J Hum Genet. 1991 Jan;48(1):26-30.
7
Discrimination between recurrent mutation and identity by descent: application to point mutations in exon 11 of the cystic fibrosis (CFTR) gene.
Hum Genet. 1991 Aug;87(4):457-61. doi: 10.1007/BF00197168.