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
β¦ LIBER β¦
Hypoxanthine-guanine phosphoribosyltransferase gene analysis for Japanese patients with Lesch-Nyhan syndrome
β Scribed by NORIKAZU SHIMIZU; HIROSHI KONOMI; MASATAKA ARIMA; TSUGUTOSHI AOKI
- Book ID
- 115176809
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 548 KB
- Volume
- 38
- Category
- Article
- ISSN
- 1328-8067
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