A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
Identifieur interne : 000F11 ( Main/Exploration ); précédent : 000F10; suivant : 000F12A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene.
Auteurs : Evelien Zoons ; Ieke B. Ginjaar ; Paul A D. Bouma ; Johannes A. Carpay ; Marina A J. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Receptors, Glycine.
- Frameshift Mutation, Genes, Recessive, Humans, Male, Middle Aged, Pedigree.
DOI: 10.1002/mds.24917
PubMed: 22290764
Affiliations:
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Le document en format XML
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<author><name sortKey="Zoons, Evelien" sort="Zoons, Evelien" uniqKey="Zoons E" first="Evelien" last="Zoons">Evelien Zoons</name>
</author>
<author><name sortKey="Ginjaar, Ieke B" sort="Ginjaar, Ieke B" uniqKey="Ginjaar I" first="Ieke B" last="Ginjaar">Ieke B. Ginjaar</name>
</author>
<author><name sortKey="Bouma, Paul A D" sort="Bouma, Paul A D" uniqKey="Bouma P" first="Paul A D" last="Bouma">Paul A D. Bouma</name>
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<author><name sortKey="Carpay, Johannes A" sort="Carpay, Johannes A" uniqKey="Carpay J" first="Johannes A" last="Carpay">Johannes A. Carpay</name>
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<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name>
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<author><name sortKey="Ginjaar, Ieke B" sort="Ginjaar, Ieke B" uniqKey="Ginjaar I" first="Ieke B" last="Ginjaar">Ieke B. Ginjaar</name>
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<author><name sortKey="Bouma, Paul A D" sort="Bouma, Paul A D" uniqKey="Bouma P" first="Paul A D" last="Bouma">Paul A D. Bouma</name>
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<author><name sortKey="Carpay, Johannes A" sort="Carpay, Johannes A" uniqKey="Carpay J" first="Johannes A" last="Carpay">Johannes A. Carpay</name>
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<author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Genes, Recessive</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Pedigree</term>
<term>Receptors, Glycine (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptors, Glycine</term>
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<keywords scheme="MESH" xml:lang="en"><term>Frameshift Mutation</term>
<term>Genes, Recessive</term>
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<tree><noCountry><name sortKey="Bouma, Paul A D" sort="Bouma, Paul A D" uniqKey="Bouma P" first="Paul A D" last="Bouma">Paul A D. Bouma</name>
<name sortKey="Carpay, Johannes A" sort="Carpay, Johannes A" uniqKey="Carpay J" first="Johannes A" last="Carpay">Johannes A. Carpay</name>
<name sortKey="Ginjaar, Ieke B" sort="Ginjaar, Ieke B" uniqKey="Ginjaar I" first="Ieke B" last="Ginjaar">Ieke B. Ginjaar</name>
<name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name>
<name sortKey="Zoons, Evelien" sort="Zoons, Evelien" uniqKey="Zoons E" first="Evelien" last="Zoons">Evelien Zoons</name>
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