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Congenital lamellar ichthyosis in Tunisia is caused by a founder nonsense mutation in the TGM1 gene
Lamellar ichthyosis (LI, MIM# 242300) is a severe autosomal recessive genodermatosis present at birth in the form of collodion membrane covering the neonate. Mutations in the TGM1 gene encoding transglutaminase-1 are a major cause of LI. In this study molecular analysis of two LI Tunisian patients r...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Netherlands
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3563951/ https://ncbi.nlm.nih.gov/pubmed/23192619 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s11033-012-2333-1 |
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