Literature DB >> 15140237

Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene.

Peter M Steijlen, Maurice A M van Steensel, Bastiaan J H Jansen, Willeke Blokx, Peter C M van de Kerkhof, Rudolf Happle, Michel van Geel.   

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Year:  2004        PMID： 15140237     DOI： 10.1111/j.0022-202X.2003.22302.x

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  5 in total

1.  A plakophilin-1 gene mutation in an egyptian family with ectodermal dysplasia-skin fragility syndrome.

Authors:  Ebtesam M Abdalla; Cristina Has
Journal:  Mol Syndromol       Date:  2014-11-28

2.  The desmosomal plaque proteins of the plakophilin family.

Authors:  Steffen Neuber; Mario Mühmer; Denise Wratten; Peter J Koch; Roland Moll; Ansgar Schmidt
Journal:  Dermatol Res Pract       Date:  2010-04-21

3.  Cancer biomarker discovery: the entropic hallmark.

Authors:  Regina Berretta; Pablo Moscato
Journal:  PLoS One       Date:  2010-08-18       Impact factor: 3.240

4.  Compensatory signals associated with the activation of human GC 5' splice sites.

Authors:  Jana Kralovicova; Gyulin Hwang; A Charlotta Asplund; Alexander Churbanov; C I Edvard Smith; Igor Vorechovsky
Journal:  Nucleic Acids Res       Date:  2011-05-23       Impact factor: 16.971

5.  Deficient plakophilin-1 expression due to a mutation in PKP1 causes ectodermal dysplasia-skin fragility syndrome in Chesapeake Bay retriever dogs.

Authors:  Thierry Olivry; Keith E Linder; Ping Wang; Petra Bizikova; Joseph A Bernstein; Stanley M Dunston; Judy S Paps; Margret L Casal
Journal:  PLoS One       Date:  2012-02-22       Impact factor: 3.240
  5 in total

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