Survey on patients with undiagnosed diseases in Japan: potential patient numbers benefiting from Japan’s initiative on rare and undiagnosed diseases (IRUD)

BACKGROUND: There is now an international partnership to establish global programs for patients with rare and undiagnosed diseases, involving interdisciplinary expert panels and phenotype-driven genetic analyses utilizing next-generation sequencing and analytics. Whereas it is crucial to have data s...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: Adachi, Takeya, Imanishi, Noriaki, Ogawa, Yasushi, Furusawa, Yoshihiko, Izumida, Yoshihiko, Izumi, Yoko, Suematsu, Makoto
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6245805/
https://ncbi.nlm.nih.gov/pubmed/30458817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0943-y
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