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Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study, we have screened 16 patients affected by LI...
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| Główni autorzy: | , , , , , , , , , , , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group
2012
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3481139/ https://ncbi.nlm.nih.gov/pubmed/23096117 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cddis.2012.152 |
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