The L450P mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together

被引：17

作者：

Duarri, Anna ^{[1
]}

Nibbeling, Esther ^{[1
]}

Fokkens, Michiel R. ^{[1
]}

Meijer, Michel ^{[2
]}

Boddeke, Erik ^{[2
]}

Lagrange, Emmeline ^{[3
]}

Stevanin, Giovanni ^{[4
,5
,6
,7
,8
]}

Brice, Alexis ^{[4
,5
,6
,7
,8
]}

Durr, Alexandra ^{[4
,5
,6
,7
,8
]}

Verbeek, Dineke S. ^{[1
]}

机构：

[1] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands

[2] Univ Groningen, Univ Med Ctr Groningen, Dept Med Physiol, Groningen, Netherlands

[3] CHU Grenoble, Reference Ctr Rare Neuromuscular Dis, Pole Psychiat & Neurol, F-38043 Grenoble, France

[4] Univ Paris 06, INSERM, U975, F-75013 Paris, France

[5] Univ Paris 06, UMR S975, Grp Hosp Pitie Salpetriere, Ctr Rech,Inst Cerveau & Moelle Epiniere, F-75013 Paris, France

[6] CNRS, UMR 7225, F-75013 Paris, France

[7] Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75013 Paris, France

[8] Univ Salpetriere Hosp, Brain & Spine Inst, ICM, Paris, France

来源：

NEUROGENETICS | 2013年 / 14卷 / 3-4期

关键词：

Cerebellar Ataxia; Spinocerebellar Ataxia; Brugada Syndrome; Autosomal Dominant Cerebellar Ataxia; Additional Family Member;

D O I：

10.1007/s10048-013-0370-0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：257 / 258

页数：2

共 6 条

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