A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein
✍ Scribed by Ersoy Tunalı, Nagehan; Marobbio, Carlo M.T.; Tiryakioğlu, N. Ozan; Punzi, Giuseppe; Saygılı, Seha K.; Önal, Hasan; Palmieri, Ferdinando
- Book ID
- 122948157
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 672 KB
- Volume
- 112
- Category
- Article
- ISSN
- 1096-7192
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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
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