✦ LIBER ✦

Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria

✍ Scribed by Susan J. Ramus; Susan M. Forrest; Richard G. H. Cotton

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 465 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010211

No coin nor oath required. For personal study only.

✦ Synopsis

Communicaied by

📜 SIMILAR VOLUMES

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

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

Ten novel mutations in the phenylalanine

Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria

✍ A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M.A. Zago 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 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

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 spectrum in Taiwanese patients

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation

✍ Yin-Hsiu Chien; Shu-Chuan Chiang; Aichu Huang; Shi-Ping Chou; Szu-San Tseng; Yua 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB

The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan. The coding sequence and exon-flanking intron sequences of PAH gene were amplified and sequenced. Mutations were identified in fo

A de novo phenylketonuria mutation: ATG

A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene

✍ Hans Geir Eiken; Per M. Knappskog; Jaran Apold; Leif Skjelkvåle; Helge Boman 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 314 KB

We here describe the detection of a de novo mutation in the phenylalanine hydroxylase gene in a Norwegian phenylketonuria (PKU) patient. This novel mutation, MlI, disrupts the start codon of the gene by a G to A transition. The compound heterozygote genotype (IVS-lZ/MlI) of this patient predicts tha