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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...

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Bibliografski detalji
Izdano u:BMC Med Inform Decis Mak
Glavni autori: Spiga, Ottavia, Cicaloni, Vittoria, Bernini, Andrea, Zatkova, Andrea, Santucci, Annalisa
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2017
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5391600/
https://ncbi.nlm.nih.gov/pubmed/28410607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12911-017-0438-0
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