Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene-Reference-Cited by-同舟云学术

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Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene

Published:1993-06 Issue:5 Volume:91 Page:451-454
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Bouwens-Rombouts Anne G. M.,van den Boogaard Marie-Jose H.,Puig Juan G.,Mateos Felicitas A.,Hennekam Raoul C. M.,Tilanus Marcel G. J.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00217770.pdf

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Paroxysmal Kinesigenic Dystonia in a Lesch-Nyhan Disease Variant;Movement Disorders Clinical Practice;2014-05-23

2. Molecular Characterization and Structure Analysis of Hprt in a Chinese Patient with Lesch-Nyhan Disease;Nucleosides, Nucleotides and Nucleic Acids;2013-01

3. Genotype-Phenotype Correlations in Lesch-Nyhan Disease;Journal of Biological Chemistry;2012-01

4. Attenuated variants of Lesch-Nyhan disease;Brain;2010-02-22

5. Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations;Journal of Inherited Metabolic Disease;2008-11-21

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