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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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Dades bibliogràfiques
Publicat a:Int J Mol Sci
Autors principals: Cimmaruta, Chiara, Liguori, Ludovica, Monticelli, Maria, Andreotti, Giuseppina, Citro, Valentina
Format: Artigo
Idioma:Inglês
Publicat: MDPI 2017
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5666731/
https://ncbi.nlm.nih.gov/pubmed/28946642
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18102049
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