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First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene

✍ Scribed by Eva Lai-wah Fung; Yuan Yuan Ho; Joannie Hui; Jack Ho Wong; Tzi-Bun Ng; Nga-Yin Fion Fong; Joerg Klepper; Kwok-Wing Stephen Tsui


Book ID
113498889
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
446 KB
Volume
33
Category
Article
ISSN
0387-7604

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Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1G→ → A). Other previously described varian