Detection of new mutations in 3 cases de novo tuberous sclerosis
Journal: Scientific Journal of Genetics and Gene Therapy (Vol.5, No. 1)Publication Date: 2019-09-12
Authors : Quintero Vásquez CA González IF Quevedo Camera ML García Ordoñez AM Celis Regalado LG;
Page : 001-006
Keywords : Tuberous; Hereditary sclerosis; Hamar-toma; Mutation; TSC1; TSC2;
Abstract
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 could experience fatal symptoms.
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Last modified: 2019-11-08 19:45:00