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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2017
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5266318/ https://www.ncbi.nlm.nih.gov/pubmed/28122049 http://dx.doi.org/10.1371/journal.pone.0170708 |