Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart
Brusius-Facchin, Ana Carolina, Siebert, Marina, Leão, Delva, Malaga, Diana Rojas, Pasqualim, Gabriela, Trapp, Franciele, Matte, Ursula, Giugliani, Roberto, Leistner-Segal, SandraVolume:
42
Year:
2019
Language:
english
Journal:
Genetics and Molecular Biology
DOI:
10.1590/1678-4685-GMB-2018-0102
File:
PDF, 1.01 MB
english, 2019