Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart

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 t...

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Bibliographic Details
Main Authors: Ana Carolina Brusius-Facchin, Marina Siebert, Delva Leão, Diana Rojas Malaga, Gabriela Pasqualim, Franciele Trapp, Ursula Matte, Roberto Giugliani, Sandra Leistner-Segal
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2019-04-01
Series:Genetics and Molecular Biology
Subjects:
Lysosomal storage disease
mucopolysaccharidoses
next generation sequencing
target sequence
mutation detection
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005012103&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005012103&lng=en&tlng=en

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