A recurrent large Alu-mediated deletion
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Makiko Mizunuma; Shin Fujimori; Hitoshi Ogino; Takamasa Ueno; Hirokazu Inoue; Na
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Article
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2001
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John Wiley and Sons
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English
β 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