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Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.

Clinical genetics - 1 Aug 2020

Padilha Janice Pacheco Dias, Brasil Carolina Serpa, Hoefel Alice Maria Luderitz, Winckler Pablo Brea, Donis Karina Carvalho, Brusius-Facchin Ana Carolina, Saute Jonas Alex Morales

Abstract excerpt

Diagnostic yield of genetic studies for Charcot-Marie-Tooth disease (CMT) is little known, with a lack of epidemiological data to build better diagnostic strategies outside the United States and Europe. We aimed to evaluate the performance of two molecular diagnostic strategies for patients with CMT, and to characterize epidemiological findings of these conditions in southern Brazil. We performed a single-center...

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Brazil
Charcot-Marie-Tooth Disease
Connexins
Gap Junction beta-1 Protein
Multiplex Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myelin P0 Protein

Myelin Proteins

Pathology, Molecular

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PMID: 32506583
DOI: 10.1111/cge.13793

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