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 of a rare disease using Fabry disease as an example.
E-Learning for Rare Diseases: An Example Using Fabry Disease / C. Cimmaruta, L. Liguori, M. Monticelli, G. Andreotti, V. Citro. - In: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. - ISSN 1422-0067. - 18:10(2017 Sep 24), pp. 2049.1-2049.15. [10.3390/ijms18102049]
E-Learning for Rare Diseases: An Example Using Fabry Disease
V. Citro
2017
Abstract
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 of a rare disease using Fabry disease as an example.
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