Literature DB >> 9241263

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

W Liu, C Qian, U Francke.   

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Year:  1997        PMID： 9241263     DOI： 10.1038/ng0897-328

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  27 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

2.  Genetic mapping of ossification of the posterior longitudinal ligament of the spine.

Authors:  H Koga; T Sakou; E Taketomi; K Hayashi; T Numasawa; S Harata; K Yone; S Matsunaga; B Otterud; I Inoue; M Leppert
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

3.  Nearby stop codons in exons of the neurofibromatosis type 1 gene are disparate splice effectors.

Authors:  S Hoffmeyer; P Nürnberg; H Ritter; R Fahsold; W Leistner; D Kaufmann; W Krone
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

Review 4.  The latent transforming growth factor beta binding protein (LTBP) family.

Authors:  R Oklü; R Hesketh
Journal:  Biochem J       Date:  2000-12-15       Impact factor: 3.857

5.  Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

Authors:  Neeti Sharma; Avinash M Mali; Sharmila A Bapat
Journal:  J Biosci       Date:  2010-06       Impact factor: 1.826

6.  An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication.

Authors:  Z Lin; G Wang; D E Demello; J Floros
Journal:  Biochem J       Date:  1999-10-01       Impact factor: 3.857

7.  Expression profile of a gamma-deletion variant of the human telomerase reverse transcriptase gene.

Authors:  Hisashi Hisatomi; Kazuma Ohyashiki; Junko H Ohyashiki; Kumi Nagao; Taichi Kanamaru; Hiroyuki Hirata; Nozomu Hibi; Yutaka Tsukada
Journal:  Neoplasia       Date:  2003 May-Jun       Impact factor: 5.715

8.  Genomic features defining exonic variants that modulate splicing.

Authors:  Adam Woolfe; James C Mullikin; Laura Elnitski
Journal:  Genome Biol       Date:  2010-02-16       Impact factor: 13.583

9.  Report on mutation in exon 15 of the APC gene in a case of brain metastasis.

Authors:  Nives Pećina-Slaus; Zeljka Majić; Vesna Musani; Martina Zeljko; Hrvoje Cupić
Journal:  J Neurooncol       Date:  2009-08-27       Impact factor: 4.130

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

Authors:  Massimo Caputi; Raymond J Kendzior; Karen L Beemon
Journal:  Genes Dev       Date:  2002-07-15       Impact factor: 11.361
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