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New mutations of the HPRT gene in Lesch-Nyhan syndrome

✍ Scribed by Betty S Mak; Ching-Shiang Chi; Chi-Ren Tsai; Wen-Jane Lee; Hsiao-Yi Lin


Book ID
117590789
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
127 KB
Volume
23
Category
Article
ISSN
0887-8994

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A recurrent large Alu-mediated deletion
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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