Genomic rearrangements resulting in PLP1 deletion occur by non-homologous end-joining and cause different dysmyelinating phenotypes in males and females

被引：126

作者：

Inoue, K

Osaka, H

Thurston, VC

Clarke, JTR

Yoneyama, A

Rosenbarker, L

Bird, TD

Hodes, ME

Shaffer, LG

Lupski, JR

机构：

[1] Univ Washington, Dept Neurol, Seattle, WA 98195 USA

[2] Natl Rehabil Ctr Disabled Children, Dept Pediat, Tokyo, Japan

[3] Hosp Sick Children, Dept Genet, Toronto, ON M5G 1X8, Canada

[4] Indiana Univ, Dept Med & Mol Genet, Indianapolis, IN 46204 USA

[5] Natl Ctr Neurosci, NCNP, Dept Neurodegenerat Dis, Tokyo, Japan

[6] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[7] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 04期

关键词：

D O I：

10.1086/342728

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

1983

引用

页码：509 / 509

页数：1

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