Linkage to a known gene but no mutation identified:: Comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause

被引：11

作者：

Beetz, Christian

Zuchner, Stephan

AshleyKoch, Allison

Auer-Grumbach, Michaela

Byrne, Paula

Chinnery, Patrick F.

Hutchinson, Michael

McDermott, Christopher J.

Meijer, Inge A.

Nygren, Anders O. H.

Pericak-Vance, Margaret

Pyle, Angela

Rouleau, Guy A.

Schickel, Joerg

Shaw, Pamela J.

Deufel, Thomas ^{[1
]}

机构：

[1] Univ Klinikum, Inst Klin Chem & Lab Diagnost, D-07747 Jena, Germany

[2] Duke Univ, Med Ctr, Ctr Human Genet, Durham, NC 27706 USA

[3] Duke Univ, Med Ctr, Dept Psychiat & Behav Sci, Durham, NC 27706 USA

[4] Graz Univ, Zentrum Med Forsch, A-8010 Graz, Austria

[5] Univ Coll Dublin, Conway Inst Biomol & Biomed Res, Dublin 2, Ireland

[6] Newcastle Univ, Mitochondrial Res Grp, Newcastle Upon Tyne, Tyne & Wear, England

[7] Newcastle Univ, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England

[8] St Vincents Univ Hosp, Dept Neurol, Dublin, Ireland

[9] Univ Coll Dublin, Dublin 2, Ireland

[10] Univ Sheffield, Sheffield Care & Res Ctr Motor Neuron Disorders, Acad Neurol Unit, Sheffield S10 2TN, S Yorkshire, England

[11] Univ Montreal, Notre Dame Hosp, Ctr Study Brain Dis, Montreal, PQ H3C 3J7, Canada

[12] McGill Univ, Dept Biol, Montreal, PQ H3A 1B1, Canada

[13] MRC, Amsterdam, Netherlands

来源：

HUMAN MUTATION | 2007年 / 28卷 / 07期

关键词：

D O I：

10.1002/humu.20508

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：739 / 740

页数：2

共 12 条

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[9] Large Genomic Rearrangements in MECP2
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