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| Brusius-Facchin,Ana Carolina; Siebert,Marina; Leão,Delva; Malaga,Diana Rojas; Pasqualim,Gabriela; Trapp,Franciele; Matte,Ursula; Giugliani,Roberto; Leistner-Segal,Sandra. |
| Abstract Mucopolysaccharidosis (MPS) are a group of rare genetic disorders caused by deficiency in the activity of specific lysosomal enzymes required for the degradation of glycosaminoglycans (GAGs). A defect in the activity of these enzymes will result in the abnormal accumulation of GAGs inside the lysosomes of most cells, inducing progressive cellular damage and multiple organ failure. DNA samples from 70 patients with biochemical diagnosis of different MPSs genotypes confirmed by Sanger sequencing were used to evaluate a Next Generation Sequencing (NGS) protocol. Eleven genes related to MPSs were divided into three different panels according to the clinical phenotype. This strategy led to the identification of several pathogenic mutations distributed... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Lysosomal storage disease; Mucopolysaccharidoses; Next generation sequencing; Target sequence; Mutation detection. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000200207 |
