First comprehensive TSC1/TSC2 mutational analysis in Mexican patients with Tuberous Sclerosis Complex reveals numerous novel pathogenic variants

The aim of this study was to improve knowledge of the mutational spectrum causing tuberous sclerosis complex (TSC) in a sample of Mexican patients, given the limited information available regarding this disease in Mexico and Latin America. Four different molecular techniques were implemented to iden...

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Detalles Bibliográficos
Autores principales: Reyna-Fabián, Miriam E., Hernández-Martínez, Nancy L., Alcántara-Ortigoza, Miguel A., Ayala-Sumuano, Jorge T., Enríquez-Flores, Sergio, Velázquez-Aragón, José A., Varela-Echavarría, Alfredo, Todd-Quiñones, Carlos G., González-del Angel, Ariadna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170856/
https://www.ncbi.nlm.nih.gov/pubmed/32313033
http://dx.doi.org/10.1038/s41598-020-62759-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170856/
https://www.ncbi.nlm.nih.gov/pubmed/32313033
http://dx.doi.org/10.1038/s41598-020-62759-5

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