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...
| Autor principal: | |
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| Outros Autores: | , , , , |
| Formato: | conferenceObject |
| Idioma: | eng |
| Publicado em: |
2018
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| Assuntos: | |
| Texto completo: | http://hdl.handle.net/10400.18/5502 |
| País: | Portugal |
| Oai: | oai:repositorio.insa.pt:10400.18/5502 |