Lesch-Nyhan disease

被引：7
|
作者：
Nyhan, W. L. [1 ]
机构：
[1] Univ Calif San Diego, Dept Pediat, La Jolla, CA 92093 USA
来源：
NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS | 2008年 / 27卷 / 6-7期
关键词：
Lesch-Nyhan disease; HPRT; mutation; hyperuricemia; self-injurious behavior;
D O I：
10.1080/15257770802135745
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransferase; other variant enzymes are found in patients without abnormality in behavior or mental development, and there are intermediate phenotypes in which enzyme activity is intermediate. A considerable number and variety of mutations in the HPRT gene have been discovered.
引用
收藏
页码：559 / 563
页数：5
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