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
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中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
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页码:236 / 237
页数:2
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