• 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

G to A polymorphism in exon 31 of the COL3A1 gene.

作者信息

Zafarullah K, Kleinert C, Tromp G, Kuivaniemi H, Kontusaari S, Wu Y L, Ganguly A, Prockop D J

机构信息

Department of Biochemistry and Molecular Biology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107-6799.

出版信息

Nucleic Acids Res. 1990 Oct 25;18(20):6180. doi: 10.1093/nar/18.20.6180.

DOI:10.1093/nar/18.20.6180
PMID:2235526
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC332473/
Abstract
摘要

相似文献

1
G to A polymorphism in exon 31 of the COL3A1 gene.COL3A1基因第31外显子中的G到A多态性。
Nucleic Acids Res. 1990 Oct 25;18(20):6180. doi: 10.1093/nar/18.20.6180.
2
C to T polymorphism in exon 33 of the COL3A1 gene.COL3A1基因第33外显子中的C到T多态性。
Nucleic Acids Res. 1991 Feb 11;19(3):681. doi: 10.1093/nar/19.3.681.
3
A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3.III型前胶原基因(COL3A1)中一个15个碱基对的富含AT的可变数目串联重复序列,作为2q31 - 2q32.3的一个信息性标记。
Matrix. 1992 Feb;12(1):44-9. doi: 10.1016/s0934-8832(11)80103-4.
4
G to A polymorphism in exon 45 of the COL1A1 gene.COL1A1基因第45外显子的G到A多态性。
Nucleic Acids Res. 1991 Aug 11;19(15):4302. doi: 10.1093/nar/19.15.4302.
5
PCR detection of a HindIII polymorphism in the human gene for type II procollagen (COL2A1).人Ⅱ型前胶原(COL2A1)基因中HindIII多态性的聚合酶链反应检测
Nucleic Acids Res. 1991 Aug 25;19(16):4571. doi: 10.1093/nar/19.16.4571-a.
6
Dinucleotide insertion/deletion polymorphism in intron 50 of the COL2A1 gene.COL2A1基因第50内含子中的二核苷酸插入/缺失多态性
Nucleic Acids Res. 1991 Aug 11;19(15):4305. doi: 10.1093/nar/19.15.4305.
7
Early-onset osteoarthritis linked to the type II procollagen gene. Detailed clinical phenotype and further analyses of the gene.
Arthritis Rheum. 1993 Mar;36(3):401-9. doi: 10.1002/art.1780360317.
8
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNA.通过聚合酶链反应扩增基因组DNA的直接测序检测人类II型前胶原基因(COL2A1)中的序列变异。
Hum Mutat. 1992;1(5):403-16. doi: 10.1002/humu.1380010510.
9
Polymorphism in the protein C gene detected by denaturing gradient gel electrophoresis.通过变性梯度凝胶电泳检测蛋白C基因的多态性。
Nucleic Acids Res. 1991 Dec 25;19(24):6982. doi: 10.1093/nar/19.24.6982.
10
A novel sequence polymorphism in exon 1 of the human vitamin D-binding protein (GC) gene.
Hum Mol Genet. 1993 Oct;2(10):1750. doi: 10.1093/hmg/2.10.1750-a.

引用本文的文献

1
Polymorphism rs1800255 from COL3A1 gene and the risk for pelvic organ prolapse.来自COL3A1基因的rs1800255多态性与盆腔器官脱垂风险
Int Urogynecol J. 2020 Jan;31(1):73-78. doi: 10.1007/s00192-019-03965-2. Epub 2019 Apr 30.
2
The collαgen III fibril has a "flexi-rod" structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles.III型胶原纤维具有“柔性杆”结构,其柔性序列中穿插着刚性生物活性结构域,其中两个具有止血作用。
PLoS One. 2017 Jul 13;12(7):e0175582. doi: 10.1371/journal.pone.0175582. eCollection 2017.
3
COL3A1 2209G>A is a predictor of pelvic organ prolapse.COL3A1基因2209G>A是盆腔器官脱垂的一个预测指标。
Int Urogynecol J Pelvic Floor Dysfunct. 2009 Sep;20(9):1113-8. doi: 10.1007/s00192-009-0913-y. Epub 2009 May 15.
4
Genetic polymorphisms in platelet-related proteins and coronary artery disease: investigation of candidate genes, including N-acetylgalactosaminyltransferase 4 (GALNT4) and sulphotransferase 1A1/2 (SULT1A1/2).血小板相关蛋白的基因多态性与冠状动脉疾病:对包括N-乙酰半乳糖胺基转移酶4(GALNT4)和磺基转移酶1A1/2(SULT1A1/2)在内的候选基因的研究。
J Thromb Thrombolysis. 2009 Feb;27(2):175-84. doi: 10.1007/s11239-008-0196-z. Epub 2008 Feb 8.
5
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.III型前胶原的一个COL3A1等位基因单倍剂量不足会导致一种类似于埃勒斯-当洛综合征血管型(IV型埃勒斯-当洛综合征)的表型。
Am J Hum Genet. 2001 Nov;69(5):989-1001. doi: 10.1086/324123. Epub 2001 Sep 27.
6
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.Ⅰ型胶原COL1A1基因外显子7的重新定义:由成骨不全一种形式中的内含子8剪接供体位点突变所致,内含子剪接顺序对剪接位点突变结果的影响
Am J Hum Genet. 1999 Aug;65(2):336-44. doi: 10.1086/302512.
7
Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.对50名无亲缘关系患者的cDNA进行测序后发现,III型前胶原三螺旋结构域的突变是主动脉瘤的罕见病因。
J Clin Invest. 1993 Jun;91(6):2539-45. doi: 10.1172/JCI116490.
8
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.在三个患有类拉森综合征的家系中对四个纤维状胶原蛋白基因进行连锁研究。
J Med Genet. 1992 Jul;29(7):465-70.
9
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.
Am J Hum Genet. 1992 Sep;51(3):497-507.

本文引用的文献

1
Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.编码人III型前胶原完整前原α1(III)链的cDNA克隆结构。与I型前胶原蛋白质结构的差异及密码子偏好性的保守性。
Biochem J. 1989 Jun 1;260(2):509-16. doi: 10.1042/bj2600509.