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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations

✍ Scribed by M. Bertelli; D. Randi; V. Micheli; S. Gallo; G. Andrighetto; P. Parmigiani; G. Jacomelli; M. Carella; C. Lievore; M. Pandolfo


Book ID
111574816
Publisher
Springer
Year
2004
Tongue
English
Weight
77 KB
Volume
27
Category
Article
ISSN
0141-8955

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A germ line mutation within the coding s
✍ Shin Fujimori; Tetsuo Tagaya; Naoyuki Kamatani; Ieo Akaoka πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 529 KB

Lesch-Nyhan syndrome caused by a complete deficiency of hypoxanthine guanine phosphoribosyltransferase (HPRT) is the result of a heterogeneous group of germ line mutations. Identification of each mutant gene provides valuable information as to the type of mutation that occurs spontaneously. We repor