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Premature Terminal Differentiation and a Reduction in Specific Proteases Associated with Loss of ABCA12 in Harlequin Ichthyosis
One of the primary functions of skin is to form a defensive barrier against external infections and water loss. Disrupted barrier function underlies the most severe and often lethal form of recessive congenital ichthyosis, harlequin ichthyosis (HI). HI is associated with mutations in the gene that e...
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| Main Authors: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society for Investigative Pathology
2009
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2665756/ https://ncbi.nlm.nih.gov/pubmed/19179616 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/ajpath.2009.080860 |
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