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A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.

Miyazaki T., Kajita M., Ohmori S., Mizutani N., Niwa T., Murata Y., Seo H.

Hum. Mutat. Suppl. 1:S139-S140(1998) [PubMed] [Europe PMC]

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