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Hereditary Neuropathies: Clinical Presentation and Genetic Panel Diagnosis

BACKGROUND: Hereditary peripheral neuropathies constitute a large group of genetic diseases, with an overall prevalence of 1:2500. In recent years, the use of so-called next-generation sequencing (NGS) has led to the identification of many previously unknown involved genes and genetic defects that c...

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Detalhes bibliográficos
Publicado no:Dtsch Arztebl Int
Main Authors: Eggermann, Katja, Gess, Burkhard, Häusler, Martin, Weis, Joachim, Hahn, Andreas, Kurth, Ingo
Formato: Artigo
Idioma:Inglês
Publicado em: Deutscher Arzte Verlag 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5832893/
https://ncbi.nlm.nih.gov/pubmed/29478438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3238/arztebl.2018.0091
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