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Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
- Source :
-
Nucleosides, Nucleotides & Nucleic Acids . 2017, Vol. 36 Issue 11, p704-711. 8p. - Publication Year :
- 2017
-
Abstract
- Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of theHPRT1gene: g.34938G>T, c.403G>T, p.D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of theHPRT1gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 15257770
- Volume :
- 36
- Issue :
- 11
- Database :
- Academic Search Index
- Journal :
- Nucleosides, Nucleotides & Nucleic Acids
- Publication Type :
- Academic Journal
- Accession number :
- 126729936
- Full Text :
- https://doi.org/10.1080/15257770.2017.1395037