Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases

Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing. The aim of this work was to develop a next-generation sequen...

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Bibliographic Details
Main Author: Coutinho, Maria Francisca (author)
Other Authors: Encarnação, Marisa (author), Nogueira, Célia (author), Silva, Lisbeth (author), Ribeiro, Diogo (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2018
Subjects:
Lysosomal Storage Disorders (LSD)
Next Generation Sequencing
Doenças Lisossomais de Sobrecarga
Painéis de NGS
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/5502
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5502

Internet

http://hdl.handle.net/10400.18/5502

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