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Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs

BACKGROUND: Mutations or alteration in expression of the 5’ nucleotidase gene family can confer altered responses to treatment with nucleoside analogs. While investigating leukemia susceptibility genes, we discovered a very rare p.L254P NT5C1A missense variant in the substrate recognition motif. Giv...

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Detalhes bibliográficos
Publicado no:Pharmacogenet Genomics
Main Authors: Saliba, Jason, Zabriskie, Ryan, Ghosh, Rajarshi, Powell, Bradford C, Hicks, Stephanie, Kimmel, Marek, Meng, Qingchang, Ritter, Deborah I, Wheeler, David A, Gibbs, Richard A, Tsai, Francis T F, Plon, Sharon E
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4853247/
https://ncbi.nlm.nih.gov/pubmed/26906009
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/FPC.0000000000000208
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