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A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.

Abstract:
Episodic ataxias are ion channel disorders characterized by attacks of incoordination. The authors performed a genome-wide screen in a large pedigree segregating a novel episodic ataxia and found significant linkage on 1q42 with a multipoint lod score of 3.65. Haplotype analysis and fine mapping yielded a peak 2-point lod score of 4.14 and indicated a 4-cM region on 1q42 that is likely to harbor an episodic ataxia gene.
Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Journal:
Neurology
Volume:
65
Issue:
1
Pages:
156-158
Publication date:
2005-07-01
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
Source identifiers:
33164

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