Lesch-Nyhan Syndrome: mRNA expression of HPRT in patients with enzyme proven deficiency of HPRT and normal HPRT coding region of the DNA

被引：11

作者：

Nguyen, Khue Vu ^{[1
,2
]}

Naviaux, Robert K. ^{[1
,2
]}

Paik, Kacie K. ^{[1
]}

Nyhan, William L. ^{[2
]}

机构：

[1] Univ Calif San Diego, Dept Med Biochem Genet & Metab, Mitochondrial & Metab Dis Ctr, Sch Med, San Diego, CA 92103 USA

[2] Univ Calif San Diego, Sch Med, Dept Pediat, La Jolla, CA 92093 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 106卷 / 04期

关键词：

Lesch-Nyhan syndrome; HPRT; Mutation; PCR; Real-time RT-PCR; Sequencing; MUTATIONS;

D O I：

10.1016/j.ymgme.2012.06.003

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNV). We report a case of two LNS affected members of a family with deficiency of activity of HPRT in intact cultured fibroblasts in whom mutation could not be found in the HPRT coding sequence but there was markedly decreased HPRT expression of mRNA. Published by Elsevier Inc.

引用

页码：498 / 501

页数：4

共 50 条

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[3] Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
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[8] MONOAMINE DEFICIENCY IN A TRANSGENIC (HPRT-) MOUSE MODEL OF LESCH-NYHAN SYNDROME
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