Mutations of CTNS causing intermediate cystinosis

被引：59

作者：

Thoene, J

Lemons, R

Anikster, Y

Mullet, J

Paelicke, K

Lucero, C

Gahl, W

Schneider, J

Shu, SG

Campbell, HT

机构：

[1] Univ Michigan, Dept Pediat, Div Biochem Genet & Metab, Ann Arbor, MI 48109 USA

[2] NICHD, Sect Human Biochem Genet, Heritable Disorders Branch, NIH, Bethesda, MD USA

[3] Univ Calif San Diego, Dept Pediat, San Diego, CA 92103 USA

[4] Taichung Vet Gen Hosp, Dept Pediat, Taichung, Taiwan

[5] Marshfield Clin Fdn Med Res & Educ, Dept Hypertens & Nephrol, Marshfield, WI USA

来源：

MOLECULAR GENETICS AND METABOLISM | 1999年 / 67卷 / 04期

关键词：

D O I：

10.1006/mgme.1999.2876

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Six patients with the intermediate form of cystinosis are described. Two have new mutations not previously described. The disease occurs due either to the combination of one mild mutation and one which is known to cause nephropathic cystinosis or to homozygosity for a predicted mild mutation. Par tial phenotypic correction of cystinotic fibroblasts by transfection with normal cDNA or a cDNA derived from a mutation causing intermediate cystinosis is demonstrated. (C) 1999 Academic Press.

引用

页码：283 / 293

页数：11

共 15 条

[1] Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS) [J].