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E-Learning for Rare Diseases: An Example Using Fabry Disease

Background: Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis o...

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Detalles Bibliográficos
Autores principales: Cimmaruta, Chiara, Liguori, Ludovica, Monticelli, Maria, Andreotti, Giuseppina, Citro, Valentina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5666731/
https://www.ncbi.nlm.nih.gov/pubmed/28946642
http://dx.doi.org/10.3390/ijms18102049