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Title :A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
Authors :Chinen, Yasutsugu
Nakamura, Sadao
Yoshida, Tomohide
Maruyama, Hiroki
Nakamura, Kimitoshi
Issue Date :16-Feb-2017
Abstract :A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low alpha-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
URL :https://doi.org/10.1038/hgv.2017.2
Type Local :雑誌掲載論文
ISSN :2054-345X
Publisher :Springer Nature
URI :http://hdl.handle.net/20.500.12000/45907
Citation :Human Genome Variation Vol.4
Appears in Collections:Peer-reviewed Journal Articles (Faculty of Medicine)

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