Prenatal diagnosis based onHPRT1gene mutation in a Lesch–Nyhan family
Author:
Publisher
Informa UK Limited
Subject
Obstetrics and Gynecology
Link
http://www.tandfonline.com/doi/pdf/10.3109/01443615.2014.969209
Reference19 articles.
1. Diagnosis and Treatment of the Lesch-Nyhan Syndrome
2. Automated DNA sequencing of the human HPRT locus
3. Analysis of the HPRT1 gene in 35 Italian Lesch–Nyhan families: 45 patients and 77 potential female carriers
4. Variable Expression of HPRT Deficiency in 5 Members of a Family With the Same Mutation
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2. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield;Genetics in Medicine;2020-04
3. Lesch-Nyhan Syndrome in a Chinese Family with Mutation in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene;Clinical Laboratory;2018
4. Lesch-Nyhan Syndrome;Atlas of Genetic Diagnosis and Counseling;2017
5. Lesch-Nyhan Syndrome;Atlas of Genetic Diagnosis and Counseling;2016
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