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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2003-10-14
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pubmed:abstractText |
Three patients from a previously described family with autosomal dominant chorea-acanthocytosis were found to have the CTG trinucleotide repeat expansion mutation of the junctophilin-3 gene associated with Huntington's disease-like 2 (HDL2). One of six previously identified patients with HDL2 had acanthocytosis on peripheral blood smear, suggesting that HDL2 should be considered in the differential of chorea-acanthocytosis.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
14
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1002-4
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:14557581-Acanthocytes,
pubmed-meshheading:14557581-Adolescent,
pubmed-meshheading:14557581-Adult,
pubmed-meshheading:14557581-Age of Onset,
pubmed-meshheading:14557581-Anion Exchange Protein 1, Erythrocyte,
pubmed-meshheading:14557581-Chorea,
pubmed-meshheading:14557581-Chromosome Disorders,
pubmed-meshheading:14557581-DNA Mutational Analysis,
pubmed-meshheading:14557581-Diagnosis, Differential,
pubmed-meshheading:14557581-Electrophoresis, Polyacrylamide Gel,
pubmed-meshheading:14557581-Erythrocyte Membrane,
pubmed-meshheading:14557581-Female,
pubmed-meshheading:14557581-Genes, Dominant,
pubmed-meshheading:14557581-Humans,
pubmed-meshheading:14557581-Huntington Disease,
pubmed-meshheading:14557581-Male,
pubmed-meshheading:14557581-Membrane Proteins,
pubmed-meshheading:14557581-Middle Aged,
pubmed-meshheading:14557581-Mutation,
pubmed-meshheading:14557581-Proteins,
pubmed-meshheading:14557581-Trinucleotide Repeat Expansion,
pubmed-meshheading:14557581-Vesicular Transport Proteins
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pubmed:year |
2003
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pubmed:articleTitle |
Huntington's disease--like 2 can present as chorea-acanthocytosis.
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pubmed:affiliation |
Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA. ruth.walker@mssm.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
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