A Novel SLC27A4 Splice Acceptor Site Mutation in Great Danes with Ichthyosis-Reference-Cited by-同舟云学术

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

Published:2015-10-27 Issue:10 Volume:10 Page:e0141514
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

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

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference35 articles.

1. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in Soreze 2009;V Oji;J Am Acad Dermatol,2010

2. Epidermolytic ichthyosis in a dog: clinical, histopathological, immunohistochemical and ultrastructural findings;L Mecklenburg;J Comp Pathol,2000

3. Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis;J Dahlqvist;J Med Genet,2007

4. Identification of a novel PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis;L Fachal;Br J Dermatol,2014

5. Characterization of bovine TGM1 and exclusion as candidate gene for ichthyosis in Chianina;S Dardano;J Hered,2008

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5. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis;PLOS ONE;2022-10-17

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