Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD

被引：17

作者：

Boespflug-Tanguy, Odile ^{[1
,2
,3
]}

Aubourg, Patrick ^{[4
]}

Dorboz, Imen ^{[3
]}

Begou, Melina ^{[3
,5
]}

Giraud, Genevieve ^{[3
,5
]}

Sarret, Catherine ^{[3
,5
,6
]}

Vaurs-Barriere, Catherine ^{[3
,5
]}

机构：

[1] Robert Debre Univ Hosp, APHP, Reference Ctr Rare Dis Leukodystrophies, Child Neurol & Metab Disorders Dept, F-75935 Paris, France

[2] Univ Paris 07, F-75013 Paris, France

[3] Inst Natl Sante & Rech Med, UMR 931, CNRS 6247, Genet Reprod & Dev Med Sch, F-63000 Clermont Ferrand, France

[4] Pediat Neurol St Vincent de Paul Hosp, APHP, Reference Ctr Rare Dis Leukodystrophies, F-75014 Paris, France

[5] Auvergne Univ Med Sch, F-63000 Clermont Ferrand, France

[6] Clermont Ferrand Univ Hosp, Dept Paediat, F-63000 Clermont Ferrand, France

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2011年 / 88卷 / 03期

关键词：

MERZBACHER-LIKE-DISEASE;

D O I：

10.1016/j.ajhg.2010.12.015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：392 / 393

页数：2

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