✦ LIBER ✦

Molecular genetics of PKU in Eastern Europe: A nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene

✍ Scribed by Tao Wang; Yoshiyuki Okano; Randy C. Eisensmith; Gyorgy Fekete; Dezso Schuler; Gyyrgy Berencsi; Istvan Nasz; Savio L. C. Woo

Book ID: 112583904
Publisher: Springer
Year: 1990
Tongue: English
Weight: 615 KB
Volume: 16
Category: Article
ISSN: 1572-9931
DOI: 10.1007/bf01650483

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification and Characterization of a

Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia

✍ Travis M. Wohlers; Nicole C. Christacos; Michelle T. Harreman; Judith L. Fridovi 📂 Article 📅 1999 🏛 American Society of Human Genetics 🌐 English ⚖ 633 KB

Prenatal diagnosis and molecular genetic

Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene

✍ Chih-Ping Chen; Schu-Rern Chern; Tung-Yao Chang; Yi-Ning Su; Yi-Yung Chen; Jun-W 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 796 KB