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Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, a...

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Detalles Bibliográficos
Autores principales: Shawky, R. M., Sayed, N.S., Elhawary, N.A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2004
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839340/
https://www.ncbi.nlm.nih.gov/pubmed/15665393
http://dx.doi.org/10.1155/2004/965968