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A novelde novomutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRTosaka)

✍ Scribed by Yasukazu Yamada; Haruko Goto; Massashi Shiomi; Tetsuya Yamamoto; Kazuya Higashino; Nobuaki Ogasawara


Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
337 KB
Volume
41
Category
Article
ISSN
1435-232X

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A recurrent large Alu-mediated deletion
✍ Makiko Mizunuma; Shin Fujimori; Hitoshi Ogino; Takamasa Ueno; Hirokazu Inoue; Na πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 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