𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Seven novel mutations in the ORNT1 gene
✍ S. Salvi; C. Dionisi-Vici; E. Bertini; M. Verardo; F.M. Santorelli πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 122 KB

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

Identification of novel mutations in the
✍ Alessandra Tessa; Giuseppe Fiermonte; Carlo Dionisi-Vici; Eleonora Paradies; Mat πŸ“‚ Article πŸ“… 2009 πŸ› John Wiley and Sons 🌐 English βš– 306 KB

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

Mutation screening of the fibrillin-1 (F
✍ Kathrin Rommel; Matthias Karck; Axel Haverich; JΓΆrg Schmidtke; Mine Arslan-Kirch πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 38 KB

Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3