Molecular Characterization of a Novel Mucopolysaccharidosis (MPS) type VI-causing 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 available in many labs. Still, whenever a novel variant is detected, its pathogenicity must be carefully assessed an...

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Bibliographic Details
Main Author: Coutinho, Maria Francisca (author)
Other Authors: Encarnação, M. (author), Santos, J.I. (author), Alves, S. (author)
Format: conferenceObject
Language:eng
Published: 2019
Subjects:
Lysosomal Storage Diseases
Mucopilysaccharidoses
ARSB
MPS VI
Splicing Mutation
Doenças Genéticas
Genética Humana
Online Access:http://hdl.handle.net/10400.18/6289
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6289

Internet

http://hdl.handle.net/10400.18/6289

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