Document Detail


A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.
MedLine Citation:
PMID:  16009908     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Z Cader; J L Steckley; D A Dyment; R S McLachlan; G C Ebers
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Neurology     Volume:  65     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2005 Jul 
Date Detail:
Created Date:  2005-07-12     Completed Date:  2006-02-24     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  156-8     Citation Subset:  AIM; IM    
Affiliation:
The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Ataxia / diagnosis,  genetics*,  physiopathology
Child
Chromosome Mapping
Chromosomes, Human, Pair 1 / genetics*
DNA Mutational Analysis
Diagnosis, Differential
Female
Genetic Markers / genetics*
Genetic Predisposition to Disease / genetics*
Genetic Testing
Genome / genetics
Genotype
Haplotypes
Humans
Inheritance Patterns
Linkage (Genetics) / genetics*
Lod Score
Male
Middle Aged
Mutation / genetics*
Pedigree
Phenotype
Vertigo / diagnosis,  genetics,  physiopathology
Chemical
Reg. No./Substance:
0/Genetic Markers

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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