Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.
Identifieur interne : 003B61 ( Ncbi/Curation ); précédent : 003B60; suivant : 003B62Screening for rare sequence variants in the THAP1 gene in a primary dystonia cohort.
Auteurs : Jeremy R B. Newman [Australie] ; Alexander C. Lehn ; Richard S. Boyle ; Peter A. Silburn ; George D. MellickSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Apoptosis Regulatory Proteins, DNA-Binding Proteins, Nuclear Proteins.
- genetics : Dystonic Disorders.
- Genetic Testing, Genetic Variation, Humans, Pedigree.
DOI: 10.1002/mds.25479
PubMed: 23649788
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pubmed:23649788Le document en format XML
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<author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name>
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<author><name sortKey="Mellick, George D" sort="Mellick, George D" uniqKey="Mellick G" first="George D" last="Mellick">George D. Mellick</name>
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<author><name sortKey="Boyle, Richard S" sort="Boyle, Richard S" uniqKey="Boyle R" first="Richard S" last="Boyle">Richard S. Boyle</name>
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<author><name sortKey="Silburn, Peter A" sort="Silburn, Peter A" uniqKey="Silburn P" first="Peter A" last="Silburn">Peter A. Silburn</name>
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<term>Genetic Variation</term>
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<term>Nuclear Proteins (genetics)</term>
<term>Pedigree</term>
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