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Article

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

International journal of molecular sciences - 24 Sept 2017

Cimmaruta Chiara, Liguori Ludovica, Monticelli Maria, Andreotti Giuseppina, Citro Valentina

Abstract excerpt

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 of a rare disease using Fabry disease as an example. METHODS: An exonic sequence derived from a hypothetical male...

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Identifiers

PMID: 28946642
DOI: 10.3390/ijms18102049
PMCID: PMC5666731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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