原纤蛋白基因（FBN1）的表皮生长因子样结构域中的两个新突变和一个中性多态性：马凡综合征患者外显子15-21的单链构象多态性筛查 - Suppr

Suppr

超能文献

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.

作者信息

Hayward C, Rae A L, Porteous M E, Logie L J, Brock D J

机构信息

Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.

出版信息

Hum Mol Genet. 1994 Feb;3(2):373-5. doi: 10.1093/hmg/3.2.373.

DOI:10.1093/hmg/3.2.373

PMID:8004112

Abstract

摘要

相似文献

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.原纤蛋白基因（FBN1）的表皮生长因子样结构域中的两个新突变和一个中性多态性：马凡综合征患者外显子15-21的单链构象多态性筛查

Hum Mol Genet. 1994 Feb;3(2):373-5. doi: 10.1093/hmg/3.2.373.

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.马凡综合征患者中，原纤维蛋白（FBN1）错义突变在表皮生长因子样结构域的半胱氨酸残基处聚集。

Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504.

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.马凡综合征中四种新型原纤蛋白-1（FBN1）突变的特征分析。

J Med Genet. 1996 Aug;33(8):665-71. doi: 10.1136/jmg.33.8.665.

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.原纤蛋白-2（FBN2）突变会导致类马凡氏综合征，即先天性挛缩性蜘蛛指症。

Nat Genet. 1995 Dec;11(4):456-8. doi: 10.1038/ng1295-456.

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes.原纤蛋白-1表皮生长因子样结构域中的半胱氨酸替代：对生化和临床表型的不同影响。

Am J Hum Genet. 1999 Oct;65(4):1007-20. doi: 10.1086/302582.

[AFBN1 gene in patients with Marfan syndrome].[马凡综合征患者中的AFBN1基因]

Mol Biol (Mosk). 2006 Nov-Dec;40(6):1021-30.

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.家族性蜘蛛指症中纤连蛋白基因（FBN1）的一种新突变。

Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045.

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.使用非同位素技术鉴定原纤维蛋白基因（FBN1）中的一种新型无义突变。

Hum Mutat. 1994;3(2):159-62. doi: 10.1002/humu.1380030212.

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations.对76名无亲缘关系的马凡综合征或类马凡综合征特征患者的原纤维蛋白-1（FBN1）基因进行突变筛查，发现了11个新突变和3个先前报道过的突变。

Hum Mutat. 2002 Nov;20(5):406-7. doi: 10.1002/humu.9075.

[Two novel mutations in fibrillin-1 gene of Marfan syndrome].[马凡综合征原纤蛋白-1基因的两个新突变]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004 Dec;21(6):562-5.

引用本文的文献

Genotype variant screening and phenotypic analysis of in Chinese patients with isolated ectopia lentis.孤立性晶状体异位患者中 GJA8 基因突变的筛查和表型分析。

Mol Med Rep. 2021 Apr;23(4). doi: 10.3892/mmr.2021.11914. Epub 2021 Feb 12.

Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.一个患有晶状体异位的中国家系中FBN1基因突变的鉴定与研究。

Mol Vis. 2012;18:504-11. Epub 2012 Feb 24.

Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.原纤维蛋白-1 中的经典型和新生儿马凡综合征突变导致不同的蛋白酶敏感性和蛋白功能。

J Biol Chem. 2011 Sep 16;286(37):32810-23. doi: 10.1074/jbc.M111.221804. Epub 2011 Jul 22.

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.FBN1基因中的提前终止突变：对差异等位基因表达、蛋白质及临床表型的不同影响。

Am J Hum Genet. 2002 Aug;71(2):223-37. doi: 10.1086/341581. Epub 2002 Jun 14.

Am J Hum Genet. 1999 Oct;65(4):1007-20. doi: 10.1086/302582.

Marfan Database (third edition): new mutations and new routines for the software.马凡氏综合征数据库（第三版）：软件的新突变与新程序

Nucleic Acids Res. 1998 Jan 1;26(1):229-3. doi: 10.1093/nar/26.1.229.

Evolving phenotype of Marfan's syndrome.马方综合征不断演变的表型。

Arch Dis Child. 1997 Jan;76(1):41-6. doi: 10.1136/adc.76.1.41.

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.马凡综合征数据库（第二版）：用于分析人类FBN1基因突变的软件和数据库。

Nucleic Acids Res. 1997 Jan 1;25(1):147-50. doi: 10.1093/nar/25.1.147.

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.由原纤蛋白-2第34外显子剪接错误导致的典型及严重致死性先天性挛缩性蜘蛛指（趾）症的家族性发病情况。

Am J Hum Genet. 1996 Nov;59(5):1027-34.

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.一名患有新生儿马凡综合征患者的双突变原纤蛋白-1（FBN1）等位基因。

J Med Genet. 1996 Sep;33(9):760-3. doi: 10.1136/jmg.33.9.760.

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