Lesch-Nyhan Syndrome in an Indian Family with Novel Mutation in the HPRT1 Gene
✍ Scribed by Suvasini Sharma, Rosa Torres Jiménez, Satinder Aneja, Marta G. Garcia, Gulshan R. Sethi
- Book ID
- 118822854
- Publisher
- Springer-Verlag
- Year
- 2011
- Tongue
- English
- Weight
- 76 KB
- Volume
- 79
- Category
- Article
- ISSN
- 0019-5456
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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
Lesch-Nyhan (LN) disease is a severe X-linked recessive neurological disorder associated with a loss of hypoxanthine guanine phosphoribosyltransferase activity (HPRT, EC 2.4.2.8). We have studied the second example of a female patient with LN disease. The molecular basis of HPRT deficiency in this p