MUTATIONS IN NGLY1 CAUSE AN INHERITED DISORDER OF THE ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION (ERAD) PATHWAY

被引：0

作者：

Enns, Gregory M. ^{[1
]}

Shashi, Vandana ^{[2
]}

Zahir, Farah ^{[3
]}

Gambello, Michael J. ^{[4
]}

Bainbridge, Matthew N. ^{[5
]}

Bast, Thomas ^{[6
]}

Crimian, Rebecca ^{[2
]}

Schoch, Kelly ^{[2
]}

Zoghbi, Huda Y. ^{[5
,7
,8
]}

Platt, Julia ^{[1
]}

Cox, Rachel ^{[1
]}

Bernstein, Jonathan ^{[1
]}

Scavina, Mena ^{[9
]}

Walter, Rhonda S. ^{[9
]}

Need, Anna C. ^{[10
]}

Oviedo, Angelica ^{[3
]}

Langlois, Sylvie ^{[3
]}

Bibb, Audrey ^{[4
]}

Jones, Melanie ^{[4
]}

Hedge, Madhuri ^{[4
]}

Gibbs, Richard A. ^{[6
]}

Schaaf, Christian P. ^{[6
,8
]}

Boyle, Sean ^{[1
]}

Butte, Atul J. ^{[1
]}

Clark, Michael ^{[1
]}

Cowan, Tina ^{[1
]}

He, Ping ^{[12
]}

Snyder, Michael ^{[1
]}

Freeze, Hudson H. ^{[12
]}

Goldstein, David B. ^{[2
]}

机构：

[1] Stanford Univ, Stanford, CA 94305 USA

[2] Duke Univ, Durham, NC USA

[3] Univ British Columbia, Vancouver, BC V5Z 1M9, Canada

[4] Emory Univ, Atlanta, GA 30322 USA

[5] Klin Kinder & Jugendliche Epilepsiezentrum Kork, Kehl, Germany

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

[7] Howard Hughes Med Inst, Chevy Chase, MD USA

[8] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA

[9] duPont Hosp Children, Wilmington, DE USA

[10] Univ London Imperial Coll Sci Technol & Med, London SW7 2AZ, England

[11] Genome British Columbia, Vancouver, BC, Canada

[12] Sanford Burnham Med Res Inst, La Jolla, CA USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2014年 / 111卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：236 / 237

页数：2