✦ LIBER ✦

Production of a model for Lesch–Nyhan syndrome in hypoxanthine phosphoribosyltransferase–deficient mice

✍ Scribed by Wu, Chao-Liang; Melton, David W.

Book ID: 109915366
Publisher: Nature Publishing Group
Year: 1993
Tongue: English
Weight: 627 KB
Volume: 3
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0393-235

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Eighteen novel mutations in patients wit

Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency

✍ I. Willers; H. Bolz; M. Wehnert; A. Gal 📂 Article 📅 1999 🏛 Springer 🌐 English ⚖ 34 KB

An atypical case of hypoxanthine-guanine

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome) : I. Clinical studies

✍ R. A. Geerdink; W. H. M. de Vries; J. Willemse; T. L. Oei; C. H. M. M. de Bruyn 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 336 KB

An atypical case of hypoxanthine-guanine

An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome) : II. Genetic studies

✍ C. H. M. M. DE Bruyn; T. L. Oei; R. A. Geerdink; E. J. P. Lommen 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 377 KB

Genetic basis of hypoxanthine guanine ph

Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint)

✍ Davidson, Beverly L.; Pashmforoush, Mohammed; Kelley, William N.; Palella, Thoma 📂 Article 📅 1988 🏛 Elsevier Science 🌐 English ⚖ 609 KB

Purine Requirement of Cells Cultured fro

Purine Requirement of Cells Cultured from Humans Affected with Lesch-Nyhan Syndrome (Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency)

✍ Jeanette S. Felix and Robert DeMars 📂 Article 📅 1969 🏛 National Academy of Sciences 🌐 English ⚖ 945 KB

Hypoxanthine guanine phosphoribosyltrans

Hypoxanthine guanine phosphoribosyltransferase deficiency: nucleotide substitution causing Lesch-Nyhan syndrome identified for the first time among Japanese

✍ Shin Fujimori; Naoyuki Kamatani; Yutaro Nishida; Nobuaki Ogasawara; Ieo Akaoka 📂 Article 📅 1990 🏛 Springer 🌐 English ⚖ 365 KB

A previously undescribed nucleotide substitution at codon 51 (CGA to TGA) has been identified using the polymerase chain reaction technique in hypoxanthine guanine phosphoribosyltransferase (HPRT) cDNA; this is the first molecular evidence for a point mutation in a Japanese patient with Lesch-Nyhan