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Fabry disease in a Japanese population-molecular and biochemical characteristics

26 Oct 2018

Abstract excerpt

We had experienced 117 Japanese Fabry patients (72 males and 45 females) from 1977 to 2006, and then we generated an improved Fabry analysis system in 2007 and have found 196 ones (95 males and 101 females) since then. In this study, we summarized the data of the patients and tried to elucidate the molecular and biochemical characteristics of Japanese Fabry patients. Gene analysis revealed various GLA mutations,...

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PMID: 30386727
DOI: 10.1016/j.ymgmr.2018.10.004

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