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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Autors principals: Terrinoni, A, Serra, V, Codispoti, A, Talamonti, E, Bui, L, Palombo, R, Sette, M, Campione, E, Didona, B, Annicchiarico-Petruzzelli, M, Zambruno, G, Melino, G, Candi, E
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2012
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Original Article
Accés en línia: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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