原山静子 Familial cases with MYH9 disorders caused by MYH9 S96L mutation. Pediatrics International
のんちゃん賞
小林正久 No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene. Molecular Genetics and Metabolism 2012 Dec;107:711-715