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
✦ 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
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## Abstract For Abstract see ChemInform Abstract in Full Text.
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