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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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| Publicado en: | PLoS One |
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| Main Authors: | , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Public Library of Science
2016
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| Assuntos: | |
| Acceso en liña: | 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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