一名马凡综合征患者中导致原纤维蛋白-1基因外显子跳跃的未分类变异：在剪接分析中使用小基因检测法 - Suppr

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

作者信息

Xiao Yan, Yang Kun-Qi, Zhou Xian-Liang, Shen Yu-Qi, Lu Chao-Xia, Zhang Xue

机构信息

Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, No 167, Beilishi Road, Beijing 100037, China.

出版信息

Clin Chim Acta. 2015 Mar 10;442:84-6. doi: 10.1016/j.cca.2015.01.019. Epub 2015 Jan 28.

DOI:10.1016/j.cca.2015.01.019

PMID:25636182

Abstract

摘要

相似文献

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

Clin Chim Acta. 2015 Mar 10;442:84-6. doi: 10.1016/j.cca.2015.01.019. Epub 2015 Jan 28.

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.

Nat Genet. 1997 Aug;16(4):328-9. doi: 10.1038/ng0897-328.

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Genes Dev. 2002 Jul 15;16(14):1754-9. doi: 10.1101/gad.997502.

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.

J Hum Genet. 2000;45(2):115-8. doi: 10.1007/s100380050027.

FBN1 exon 2 splicing error in a patient with Marfan syndrome.

Am J Med Genet. 2001 Jun 15;101(2):130-4. doi: 10.1002/1096-8628(20010615)101:2<130::aid-ajmg1333>3.0.co;2-v.

Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.

Arch Ophthalmol. 2003 Apr;121(4):579-81. doi: 10.1001/archopht.121.4.579.

Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.

Pediatr Cardiol. 1999 Sep-Oct;20(5):382-5. doi: 10.1007/s002469900493.

Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.

Hum Genet. 2007 Dec;122(5):548.

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.

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

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.

Clin Genet. 2010 May;77(5):453-63. doi: 10.1111/j.1399-0004.2009.01337.x. Epub 2010 Feb 4.

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An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

作者信息

Xiao Yan, Yang Kun-Qi, Zhou Xian-Liang, Shen Yu-Qi, Lu Chao-Xia, Zhang Xue

机构信息

出版信息

Clin Chim Acta. 2015 Mar 10;442:84-6. doi: 10.1016/j.cca.2015.01.019. Epub 2015 Jan 28.

DOI:10.1016/j.cca.2015.01.019

PMID:25636182

Abstract

摘要

相似文献

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

Clin Chim Acta. 2015 Mar 10;442:84-6. doi: 10.1016/j.cca.2015.01.019. Epub 2015 Jan 28.

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome.

Nat Genet. 1997 Aug;16(4):328-9. doi: 10.1038/ng0897-328.

A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

Genes Dev. 2002 Jul 15;16(14):1754-9. doi: 10.1101/gad.997502.

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.

J Hum Genet. 2000;45(2):115-8. doi: 10.1007/s100380050027.

FBN1 exon 2 splicing error in a patient with Marfan syndrome.

Am J Med Genet. 2001 Jun 15;101(2):130-4. doi: 10.1002/1096-8628(20010615)101:2<130::aid-ajmg1333>3.0.co;2-v.

Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.

Arch Ophthalmol. 2003 Apr;121(4):579-81. doi: 10.1001/archopht.121.4.579.

Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.

Pediatr Cardiol. 1999 Sep-Oct;20(5):382-5. doi: 10.1007/s002469900493.

Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.

Hum Genet. 2007 Dec;122(5):548.

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.

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

Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.

Clin Genet. 2010 May;77(5):453-63. doi: 10.1111/j.1399-0004.2009.01337.x. Epub 2010 Feb 4.

An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

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机构信息

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相似文献

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An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.

作者信息

机构信息

出版信息

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