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ApreciseKUre: an approach of Precision Medicine in a Rare Disease
BACKGROUND: Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. MAIN BODY OF THE ABSTRACT: Our objective is the implementation of...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2017
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391600/ https://www.ncbi.nlm.nih.gov/pubmed/28410607 http://dx.doi.org/10.1186/s12911-017-0438-0 |