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Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA

✍ Scribed by Murali D. Bashyam; Ajay K. Chaudhary; E. Chandrakanth Reddy; A. Radha Rama Devi; G.R. Savithri; R. Ratheesh; Leena Bashyam; E. Mahesh; Dity Sen; Ratna Puri; Inder C. Verma; Sheela Nampoothiri; Sunitha Vaidyanathan; Mataguru D. Chandrashekar; Prameela Kantheti


Book ID
116988950
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
245 KB
Volume
100
Category
Article
ISSN
1096-7192

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Ten novel mutations in the phenylalanine
✍ A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M.A. Zago πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the