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Article

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

PloS one - 1 Jan 2015

Metzger Julia, Wöhlke Anne, Mischke Reinhard, Hoffmann Annalena, Hewicker-Trautwein Marion, Küch Eva-Maria, Naim Hassan Y, Distl Ottmar

Abstract excerpt

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 Danes revealed a genome-wide significant peak on chromosome 9 at 57-58 Mb in the region of SLC27A4. Sequence analysis of...

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PMID: 26506231
DOI: 10.1371/journal.pone.0141514
PMCID: PMC4624637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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