Literature DB >> 9452033

Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes.

L Karttunen1, T Ukkonen, K Kainulainen, A C Syvänen, L Peltonen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9452033     DOI： 10.1002/humu.1380110112

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


× No keyword cloud information.
  6 in total

1.  Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes.

Authors:  Iris Schrijver; Wanguo Liu; Raanan Odom; Thomas Brenn; Peter Oefner; Heinz Furthmayr; Uta Francke
Journal:  Am J Hum Genet       Date:  2002-06-14       Impact factor: 11.025

2.  Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.

Authors:  L Faivre; G Collod-Beroud; B Callewaert; A Child; C Binquet; E Gautier; B L Loeys; E Arbustini; K Mayer; M Arslan-Kirchner; C Stheneur; A Kiotsekoglou; P Comeglio; N Marziliano; J E Wolf; O Bouchot; P Khau-Van-Kien; C Beroud; M Claustres; C Bonithon-Kopp; P N Robinson; L Adès; J De Backer; P Coucke; U Francke; A De Paepe; G Jondeau; C Boileau
Journal:  Eur J Hum Genet       Date:  2008-11-12       Impact factor: 4.246

3.  Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

Authors:  Linnea M Baudhuin; Katrina E Kotzer; Susan A Lagerstedt
Journal:  Genet Med       Date:  2014-08-07       Impact factor: 8.822

4.  A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

Authors:  Sacha A Jensen; Sarah Iqbal; Alicja Bulsiewicz; Penny A Handford
Journal:  Hum Mol Genet       Date:  2015-05-15       Impact factor: 6.150

5.  Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

Authors:  François-Olivier Desmet; Dalil Hamroun; Marine Lalande; Gwenaëlle Collod-Béroud; Mireille Claustres; Christophe Béroud
Journal:  Nucleic Acids Res       Date:  2009-04-01       Impact factor: 16.971

6.  A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Authors:  Mario Torrado; Emilia Maneiro; Juan Pablo Trujillo-Quintero; Arturo Evangelista; Alexander T Mikhailov; Lorenzo Monserrat
Journal:  Biomed Res Int       Date:  2018-05-29       Impact factor: 3.411
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.