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Elevated Plasma Succinate Among PTEN, SDHB and SDHD Mutation Positive Individuals

PURPOSE: Cowden Syndrome (CS) results from germline mutations in phosphatase and tensin homologue deleted on chromosome ten (PTEN) and from variants in succinate dehydrogenase (SDH) B and D subunits. We hypothesized that succinate accumulation may be common among individuals with SDH variants/mutati...

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Bibliographic Details
Main Authors: Hobert, Judith A., Mester, Jessica L., Moline, Jessica, Eng, Charis
Format: Artigo
Language:Inglês
Published: 2012
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4019996/
https://ncbi.nlm.nih.gov/pubmed/22261759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2011.63
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