Literature DB >> 19854623

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

Monika Ołdak, Cezary Kowalewski, Radosław B Maksym, Katarzyna Woźniak, Agnieszka Pollak, Marta Podgórska, Artur Wnorowski, Joanna Kosińska, Rafał Płoski.   

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Year:  2009        PMID： 19854623     DOI： 10.1016/j.jdermsci.2009.09.006

Source DB:  PubMed          Journal:  J Dermatol Sci        ISSN： 0923-1811            Impact factor:   4.563


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  3 in total

1.  [Molecular diagnostics in genodermatoses].

Authors:  Martin Laimer; Johann W Bauer; Roland Lang
Journal:  Hautarzt       Date:  2015-03       Impact factor: 0.751

2.  Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.

Authors:  K Wertheim-Tysarowska; M Ołdak; A Giza; A Kutkowska-Kaźmierczak; J Sota; D Przybylska; K Woźniak; D Śniegórska; K Niepokój; A Sobczyńska-Tomaszewska; A M Rygiel; R Płoski; J Bal; C Kowalewski
Journal:  J Appl Genet       Date:  2015-10-02       Impact factor: 3.240

3.  A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.

Authors:  Marcos Gouveia; Tjaša Sorčan; Špela Zemljič-Jokhadar; Rui D M Travasso; Mirjana Liović
Journal:  PLoS One       Date:  2021-12-28       Impact factor: 3.240
  3 in total

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