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A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis

Ichthyoses are a group of various different types of hereditary disorders affecting skin cornification. They are characterized by hyperkeratoses of different severity levels and are associated with a dry and scaling skin. Genome-wide association analysis of nine affected and 13 unaffected Great Dane...

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Vydáno v:PLoS One
Hlavní autoři: Metzger, Julia, Wöhlke, Anne, Mischke, Reinhard, Hoffmann, Annalena, Hewicker-Trautwein, Marion, Küch, Eva-Maria, Naim, Hassan Y., Distl, Ottmar
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4624637/
https://ncbi.nlm.nih.gov/pubmed/26506231
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0141514
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