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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9866252/
https://www.ncbi.nlm.nih.gov/pubmed/36676727
http://dx.doi.org/10.3390/medicina59010103

Ejemplares similares