A Defect in NIPAL4 Is Associated with Autosomal Recessive Congenital Ichthyosis in American Bulldogs

Autosomal recessive congenital ichthyosis in the American bulldog is characterized by generalized scaling and erythema with adherent scale on the glabrous skin. We had previously linked this disorder to NIPAL4, which encodes the protein ichthyin. Sequencing of NIPAL4 revealed a homozygous single bas...

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Udgivet i:PLoS One
Main Authors: Casal, Margret L., Wang, Ping, Mauldin, Elizabeth A., Lin, Gloria, Henthorn, Paula S.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5266318/
https://ncbi.nlm.nih.gov/pubmed/28122049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0170708
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