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+1Gβ β A). Other previously described varian
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
β Scribed by Seiichi Tsujino; Naomi Kanazawa; Tohya Ohashi; Yoshikatsu Eto; Toyokazu Saito; Jun-Ichi Kira; Takeshi Yamada
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 875 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0364-5134
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Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder of the urea cycle. With the exception of the French-Canadian founder effect, no common mutation has been detected in other populations. In this study, we collected 16 additional HHH cases and expande
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