An asymptomatic mutation complicating severe chemotherapy-induced peripheral neuropathy (CIPN): a case for personalised medicine and a zebrafish model of CIPN

Targeted next-generation sequencing (NGS) identified a novel loss of function mutation in GARS, a gene linked to Charcot–Marie–Tooth disease (CMT), in a paediatric acute lymphoblastic leukaemia patient with severe chemotherapy-induced peripheral neuropathy (CIPN) due to vincristine. The patient was...

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Publicado no:NPJ Genom Med
Main Authors: Holloway, Michael P, DeNardo, Bradley D, Phornphutkul, Chanika, Nguyen, Kevin, Davis, Colby, Jackson, Cynthia, Richendrfer, Holly, Creton, Robbert, Altura, Rachel A
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5685301/
https://ncbi.nlm.nih.gov/pubmed/29263815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/npjgenmed.2016.16
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