Autosomal Recessive Congenital Ichthyosis in American Bulldogs Is Associated With NIPAL4 (ICHTHYIN) Deficiency

A minority of patients with nonsyndromic autosomal recessive congenital ichthyosis (ARCI) display mutations in NIPAL4 (ICH-THYIN). This protein plays a role in epidermal lipid metabolism, although the mechanism is unknown. The study describes a moderate form of ARCI in an extended pedigree of Americ...

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Detalles Bibliográficos
Publicado en:Vet Pathol
Main Authors: Mauldin, E. A., Wang, P., Evans, E., Cantner, C. A., Ferracone, J. D., Credille, K. M., Casal, M. L.
Formato: Artigo
Idioma:Inglês
Publicado: 2014
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4492690/
https://ncbi.nlm.nih.gov/pubmed/25322746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300985814551425
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