𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome

✍ Scribed by P. J. Renwick; A. J. Birley; C. M. E. McKeown; M. Hultén


Book ID
115091704
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
497 KB
Volume
48
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


A recurrent large Alu-mediated deletion
✍ Makiko Mizunuma; Shin Fujimori; Hitoshi Ogino; Takamasa Ueno; Hirokazu Inoue; Na 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 507 KB

We identified the identical large genomic deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene in two Japanese patients with Lesch-Nyhan (LN) syndrome. This deletion spanned from an Alu sequence in the promoter region to another Alu-sequence in intron 1, a length of 2,969 base pairs i

Novel nonsense mutation in the hypoxanth
✍ Bernard Aral; Geneviève de Saint Basile; Sami Al-Garawi; Pierre Kamoun; Irène Ce 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 685 KB

Lesch-Nyhan (LN) disease is a severe X-linked recessive neurological disorder associated with a loss of hypoxanthine guanine phosphoribosyltransferase activity (HPRT, EC 2.4.2.8). We have studied the second example of a female patient with LN disease. The molecular basis of HPRT deficiency in this p