Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis

Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5’ splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this s...

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Bibliografiska uppgifter
I publikationen:PLoS One
Huvudupphovsmän: Zhang, Lei, Ferreyros, Michael, Feng, Weiguo, Hupe, Melanie, Crumrine, Debra A., Chen, Jiang, Elias, Peter M., Holleran, Walter M., Niswander, Lee, Hohl, Daniel, Williams, Trevor, Torchia, Enrique C., Roop, Dennis R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2016
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4994956/
https://ncbi.nlm.nih.gov/pubmed/27551807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0161465
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