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Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema. This phenotype is frequently associated with a mutation in the TGM1 gene, encoding the enzyme transglutaminase 1 which pl...

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Detalles Bibliográficos
Autores principales:	Almazroea, Abdulhadi, Ijaz, Ambreen, Aziz, Abdul, Mushtaq Yasinzai, Muhammad, Rafiullah, Rafiullah, Rehman, Fazal Ur, Daud, Shakeela, Shaikh, Rozeena, Ayub, Muhammad, Wali, Abdul
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9866252/ https://www.ncbi.nlm.nih.gov/pubmed/36676727 http://dx.doi.org/10.3390/medicina59010103

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