✦ LIBER ✦

Phenylalanine hydroxylase gene in psychiatric patients: screening and functional assay of mutations

✍ Scribed by Mary Ann Richardson; Laura L Read; James D Clelland; Helen M Chao; Margaret A Reilly; Anne Romstad; Raymond F Suckow

Book ID: 119408969
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 103 KB
Volume: 53
Category: Article
ISSN: 0006-3223
DOI: 10.1016/s0006-3223(02)01528-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Structural and functional analyses of mu

Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene

✍ Sang-Wun Kim; Jongsun Jung; Hyun-Jeong Oh; Jihong Kim; Kwang-Soo Lee; Dong-Hwan 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 679 KB

Mutations of the phenylalanine hydroxyla

Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria

✍ A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M. Gomes; M.A. Zago 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 2 views

Eight new mutations of the phenylalanine

Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia

✍ Paolo Bosco; Francesco Calì; Concetta Meli; Florindo Mollica; Enrico Zammarchi; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB 👁 2 views

This report identifies eight new mutations of the phenylalanine hydroxylase gene detected in Italian patients with hyperphenylalaninemia. The trivial name of the mutations, predicted phenotypic effect, and population of origin (Italian region) are as follows: F55L (nonconservative change: classic, m

Mutation screening of the Wolfram syndro

Mutation screening of the Wolfram syndrome gene in psychiatric patients

✍ Torres, R; Leroy, E; Hu, X; Katrivanou, A; Gourzis, P; Papachatzopoulou, A; Atha 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 196 KB

Five novel missense mutations of the phe

Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

✍ Paule Bénit; Françoise Rey; Dominique Melle; Arnold Munnich; Jean Rey 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB 👁 1 views

Phenylalanine hydroxylase gene mutations

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

✍ Murali D. Bashyam; Ajay K. Chaudhary; E. Chandrakanth Reddy; A. Radha Rama Devi; 📂 Article 📅 2010 🏛 Elsevier Science 🌐 English ⚖ 245 KB