Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

被引：57

作者：

Yamamoto, T

Ninomiya, H

Matsumoto, M

Ohta, Y

Nanba, E

Tsutsumi, Y

Yamakawa, K

Millat, G

Vanier, MT

Pentchev, PG

Ohno, K

机构：

[1] Tottori Univ, Ctr Gene Res, Yonago, Tottori 6838503, Japan

[2] Tottori Univ, Fac Med, Sch Life Sci, Dept Neurobiol, Yonago, Tottori 6838503, Japan

[3] RIKEN, Brain Sci Inst, Neurogenet Lab, Wako, Saitama 3510198, Japan

[4] Lyon Sud Med Sch, INSERM, U189, F-69921 Oullins, France

[5] Lyon Sud Hosp, Fdn Gillet Merieux, F-69921 Oullins, France

[6] NINDS, NIH, Bethesda, MD 20892 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2000年 / 37卷 / 09期

关键词：

D O I：

10.1136/jmg.37.9.707

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：707 / 711

页数：5

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