Literature DB >> 16159727

Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.

Vesarat Wessagowit, John A McGrath.   

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Year:  2005        PMID： 16159727     DOI： 10.1080/00015550510011763

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  5 in total

Review 1.  Diseases of epidermal keratins and their linker proteins.

Authors:  Jouni Uitto; Gabriele Richard; John A McGrath
Journal:  Exp Cell Res       Date:  2007-04-24       Impact factor: 3.905

2.  Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.

Authors:  R Varki; S Sadowski; E Pfendner; J Uitto
Journal:  J Med Genet       Date:  2006-02-10       Impact factor: 6.318

3.  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

4.  Cancer biomarker discovery: the entropic hallmark.

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

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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