Literature DB >> 9452085

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

C Black1, A P Withers, J R Gray, A B Bridges, A Craig, D U Baty, M Boxer.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9452085     DOI： 10.1002/humu.1380110164

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


× No keyword cloud information.
  5 in total

Review 1.  The molecular genetics of Marfan syndrome and related microfibrillopathies.

Authors:  P N Robinson; M Godfrey
Journal:  J Med Genet       Date:  2000-01       Impact factor: 6.318

Review 2.  The molecular genetics of Marfan syndrome and related disorders.

Authors:  P N Robinson; E Arteaga-Solis; C Baldock; G Collod-Béroud; P Booms; A De Paepe; H C Dietz; G Guo; P A Handford; D P Judge; C M Kielty; B Loeys; D M Milewicz; A Ney; F Ramirez; D P Reinhardt; K Tiedemann; P Whiteman; M Godfrey
Journal:  J Med Genet       Date:  2006-03-29       Impact factor: 6.318

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

Authors:  P Comeglio; A L Evans; G Brice; R J Cooling; A H Child
Journal:  Br J Ophthalmol       Date:  2002-12       Impact factor: 4.638

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

Authors:  Shazia Micheal; Muhammad Imran Khan; Farah Akhtar; Marjan M Weiss; Farah Islam; Mehmood Ali; Raheel Qamar; Alessandra Maugeri; Anneke I den Hollander
Journal:  Mol Vis       Date:  2012-07-18       Impact factor: 2.367

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

Authors:  Ting Deng; Bing Dong; Xiaohui Zhang; Hanjun Dai; Yang Li
Journal:  Mol Vis       Date:  2008-06-30       Impact factor: 2.367
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.