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Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer
Harlequin ichthyosis (HI) is a devastating skin disorder with an unknown underlying cause. Abnormal keratinocyte lamellar granules (LGs) are a hallmark of HI skin. ABCA12 is a member of the ATP-binding cassette transporter family, and members of the ABCA subfamily are known to have closely related f...
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| Główni autorzy: | , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Clinical Investigation
2005
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1159149/ https://ncbi.nlm.nih.gov/pubmed/16007253 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI24834 |
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