Molecular Characterization of a Novel Mucopolysaccharidosis type VIcausing Mutation - Indirect Proof of Principle on its Pathogenicity

Introduction: With its unprecedented throughput, scalability and speed, next-generation sequencing (NGS) is revolutionizing clinical research. Targeted sequencing in particular is now implemented in many labs. While being well known that this unparalleled capacity is speeding up molecular diagnostic...

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Bibliographic Details
Main Author: Coutinho, Maria Francisca (author)
Other Authors: Encarnação, Marisa (author), Santos, Juliana Inês (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2018
Subjects:
Mucopolysaccharidosis (MPS)
Mucopolissacaridoses
Next Generation Sequencing
Diagnóstico Molecular
MPS VI
Mutações de splicing
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/5515
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5515

Internet

http://hdl.handle.net/10400.18/5515

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