𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Detection of the Homozygote by Erythrocyte Analysis and of the Heterozygote by Hair-root Analysis in Lesch-Nyhan Syndrome

✍ Scribed by Hitoshi Oginom; Nobuko Hiratani; Soichi Kodama; Tamotsu Matsuo

Book ID
118710130
Publisher
John Wiley and Sons
Year
1975
Tongue
English
Weight
50 KB
Volume
17
Category
Article
ISSN
1328-8067

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

PRENATAL DIAGNOSIS BY ENZYME ANALYSIS IN
PRENATAL DIAGNOSIS BY ENZYME ANALYSIS IN 15 PREGNANCIES AT RISK FOR THE LESCH–NYHAN SYNDROME
✍ GORDON W. GRAHAM; DAVID A. AITKEN; J. MICHAEL CONNOR πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 392 KB πŸ‘ 2 views

Fifteen pregnancies at risk for Lesch-Nyhan syndrome were investigated between 8 and 17 weeks' gestation by measurement of hypoxanthine-guanine phosphoribosyl transferase (HGPRT) and adenine phosphoribosyl transferase (APRT) enzyme activities in chorionic villus samples (cultured and uncultured) or

Molecular analysis of the mutations in f
Molecular analysis of the mutations in five unrelated patients with the Lesch Nyhan syndrome
✍ Suzanne Marcus; Ernst Christensen; Gunilla Malm πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 515 KB

## Communicated by C. Thomas Caskey We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respec