Detection of new mutations in 3 cases de novo tuberous sclerosis

• Główni autorzy: Carlos Andres Quintero Vasquez (Autor), Isabel Fernandez Gonzalez (Autor), Maria Luisa Quevedo Camera (Autor), Angelica Maria Garcia Ordonez (Autor), Luis Gustavo Celis Regalado (Autor)
• Format: Książka
• Wydane: Scientific Journal of Genetics and Gene Therapy - Peertechz Publications, 2019-09-12.
• Hasła przedmiotowe: Research Article
• Dostęp online: Connect to this object online.

<p><strong>Introduction</strong>: The tuberous sclerosis complex is a multisystemic disease of autosomal dominant etiology, not pretty common in Latin America. It is caused by the mutation of the TSC1 and TSC2 genes which is characterized by uncontrolled production of Hamartomas in...