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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Detalles Bibliográficos
Autores principales: Louhichi, Nacim, Hadjsalem, Ikhlass, Marrakchi, Slaheddine, Trabelsi, Fatma, Masmoudi, Abderrahmen, Turki, Hamida, Fakhfakh, Faiza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563951/
https://www.ncbi.nlm.nih.gov/pubmed/23192619
http://dx.doi.org/10.1007/s11033-012-2333-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563951/
https://www.ncbi.nlm.nih.gov/pubmed/23192619
http://dx.doi.org/10.1007/s11033-012-2333-1

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