ミトコンドリア病と鑑別を要する臨床表現型を呈しCYP27A1遺伝子エクソン1に新規フレームシフト変異(c. 43_44delGG)を認めた脳腱黄色腫症の1例

Overview of attention for article published in Rinshō shinkeigaku Clinical neurology, October 2016

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PubMed: A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a… https://t.co/iEKWM9qgws

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