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    Detection of new mutations in 3 cases de novo tuberous sclerosis

    DOI Logo 10.17352/sjggt.000017

    Published On: September 12, 2019 | Pages: 001 - 006

    Author(s): Carlos Andres Quintero Vasquez, Isabel Fernandez Gonzalez, Maria Luisa Quevedo Camera, Angelica Maria Garcia Ordonez and Luis Gustavo Celis Regalado*
    Introduction: 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 diverse organs and systems. However, some patients could present asymptomatic characteristics whereas other ... CrossMark Publons Harvard Library HOLLIS Search IT Semantic Scholar Get Citation Base Search Scilit OAI-PMH ResearchGate Academic Microsoft GrowKudos
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