COL3A1基因第33外显子中的C到T多态性。 - Suppr

C to T polymorphism in exon 33 of the COL3A1 gene.

作者信息

Tromp G, Kleinert C, Kuivaniemi H, 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. 1991 Feb 11;19(3):681. doi: 10.1093/nar/19.3.681.

DOI:10.1093/nar/19.3.681

PMID:2011540

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC333671/

Abstract

摘要

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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.

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。

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PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1.基于聚合酶链反应（PCR）检测位于3p21.1的人类VII型胶原蛋白基因（COL7A1）的两个外显子多态性。

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Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.

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Dinucleotide repeat polymorphism at the human preproglucagon gene.人胰高血糖素原基因的二核苷酸重复多态性

Nucleic Acids Res. 1991 Feb 11;19(3):688.

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.

PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).采用聚合酶链反应（PCR）检测胆色素原脱氨酶基因（PBG-D）第10外显子的G/T多态性。

Nucleic Acids Res. 1991 Apr 25;19(8):1966. doi: 10.1093/nar/19.8.1966.

Detection by the polymerase chain reaction of two polymorphisms in exon 14 of the human inter-alpha-trypsin inhibitor heavy chain H1 gene.

Hum Genet. 1994 Jan;93(1):91-2. doi: 10.1007/BF00218925.

Polymorphism in exon M7 of the PTHR gene.

Hum Mol Genet. 1994 Jul;3(7):1210. doi: 10.1093/hmg/3.7.1210-a.

Three new polymorphisms at the COL1A2 locus.

Matrix. 1992 Apr;12(2):87-91. doi: 10.1016/s0934-8832(11)80049-1.

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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.

Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms.腹主动脉瘤患者生物学相关候选基因多态性的遗传分析。

J Vasc Surg. 2005 Jun;41(6):1036-42. doi: 10.1016/j.jvs.2005.02.020.

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.

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.

Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family.在一个大家庭中排除COL1A1、COL1A2和COL3A1基因作为Ⅰ型埃勒斯-当洛综合征候选基因的可能性。

Hum Genet. 1991 Dec;88(2):125-9. doi: 10.1007/BF00206058.

Selection for screening for familial aortic aneurysms.家族性主动脉瘤筛查的选择

Br J Surg. 1992 Sep;79(9):897-8. doi: 10.1002/bjs.1800790914.

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C to T polymorphism in exon 33 of the COL3A1 gene.

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