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Miller syndrome with novel dihydroorotate dehydrogenase gene mutations

✍ Scribed by Fumiko Kinoshita; Tatsuro Kondoh; Kazuhiro Komori; Takeshi Matsui; Naoki Harada; Akinori Yanai; Masafumi Fukuda; Kanako Morifuji; Tadashi Matsumoto

Book ID
108973161
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
489 KB
Volume
53
Category
Article
ISSN
1328-8067

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SjΓΆgren-Larsson syndrome (SLS) is an inherited neurocutaneous disease caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase (FALDH), an enzyme involved in lipid metabolism. We performed mutation analysis in probands or fetuses from 13 unrelated SLS families and identifi