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Keywords: mutation
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Journal:
Essays in Biochemistry
Essays Biochem (2024) EBC20230078.
Published: 22 July 2024
... with a total of four validated isoforms. MDH1 and MDH2 are widely expressed, while MDH1B is only expressed in a small subset of tissues. Many mutations in MDH1 and MDH2 have been identified in patients, but only a few have been studied to determine what symptoms they cause. MDH1 has been associated with cancer...