复发性FBN1突变（R122C）与非典型家族性马凡综合征表型的相关性。 - Suppr

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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

作者信息

Black C, Withers A P, Gray J R, Bridges A B, Craig A, Baty D U, Boxer M

机构信息

Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.

出版信息

Hum Mutat. 1998;Suppl 1:S198-200. doi: 10.1002/humu.1380110164.

DOI:10.1002/humu.1380110164

PMID:9452085

Abstract

摘要

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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

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Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

作者信息

Black C, Withers A P, Gray J R, Bridges A B, Craig A, Baty D U, Boxer M

机构信息

Department of Pathology, Ninewells Hospital and Medical School, Dundee, UK.

出版信息

Hum Mutat. 1998;Suppl 1:S198-200. doi: 10.1002/humu.1380110164.

DOI:10.1002/humu.1380110164

PMID:9452085

Abstract

摘要

相似文献

Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype.

Hum Mutat. 1998;Suppl 1:S198-200. doi: 10.1002/humu.1380110164.

A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.

Hum Hered. 1999 Jun;49(3):176-7. doi: 10.1159/000022867.

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.

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.

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

The Arg1075His substitution in the FBN1 gene is clinically innocent for Marfan syndrome.

Hum Mutat. 2000 Mar;15(3):298. doi: 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU19>3.0.CO;2-O.

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome.

Hum Mutat. 2001 Dec;18(6):546-7. doi: 10.1002/humu.1235.

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome.

J Clin Invest. 1995 May;95(5):2373-8. doi: 10.1172/JCI117930.

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.

Eur J Hum Genet. 2001 Jan;9(1):13-21. doi: 10.1038/sj.ejhg.5200582.

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.

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

Identification of a novel FBN1 mutation in a Chinese family with isolated ectopia lentis.

Mol Vis. 2011;17:3481-5. Epub 2011 Dec 29.

引用本文的文献

A novel missense variant of gene in a Sardinian family with Marfan syndrome: a case report.

Front Pediatr. 2025 Mar 7;13:1549504. doi: 10.3389/fped.2025.1549504. eCollection 2025.

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Mol Genet Genomic Med. 2023 May;11(5):e2140. doi: 10.1002/mgg3.2140. Epub 2023 Jan 20.

Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.

Mol Vis. 2012;18:1918-26. Epub 2012 Jul 18.

Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

Mol Vis. 2008 Jun 30;14:1229-33.

The molecular genetics of Marfan syndrome and related disorders.

J Med Genet. 2006 Oct;43(10):769-87. doi: 10.1136/jmg.2005.039669. Epub 2006 Mar 29.

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.

Br J Ophthalmol. 2002 Dec;86(12):1359-62. doi: 10.1136/bjo.86.12.1359.

The molecular genetics of Marfan syndrome and related microfibrillopathies.

J Med Genet. 2000 Jan;37(1):9-25. doi: 10.1136/jmg.37.1.9.