MovDisordV3, Main, Exploration, bibRecordById, Pascal:07-0263073

Refinement of the DYT15 locus in myoclonus dystonia

Identifieur interne : 003077 ( Main/Exploration ); précédent : 003076; suivant : 003078

Refinement of the DYT15 locus in myoclonus dystonia

Auteurs : FABIN HAN [Canada] ; Lemuel Racacho [Canada] ; Anthony E. Lang [Canada] ; Dennis E. Bulman [Canada] ; David A. Grimes [Canada]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0263073

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Myoclonie, Dystonie, Affinement, Locus.

English descriptors

KwdEn :
- Dystonia, Locus, Myoclonus, Nervous system diseases, Refinement.

Abstract

Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome 18p11 (OMIM number: 607488). Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine-mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations.

Affiliations:

Canada

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 001684
to stream PascalFrancis, to step Curation: 001637
to stream PascalFrancis, to step Checkpoint: 001491
to stream Main, to step Merge: 004081
to stream Main, to step Curation: 003077

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Refinement of the DYT15 locus in myoclonus dystonia</title>
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<series><title level="j" type="main">Movement disorders</title>
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<term>Nervous system diseases</term>
<term>Refinement</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Myoclonie</term>
<term>Dystonie</term>
<term>Affinement</term>
<term>Locus</term>
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<front><div type="abstract" xml:lang="en">Inherited myoclonus dystonia (MD) is an autosomal dominant disorder in which we previously mapped a novel locus to chromosome 18p11 (OMIM number: 607488). Since no further informative STS markers were found within the flanking shared regions, we utilized single nucleotide polymorphisms (SNP) for fine-mapping. All known or predicted genes within this region were directly sequenced. We identified three recombinant SNPs in the distal region but none from the proximal region. Our previous linked region has now been reduced to 3.18 Mb but direct sequencing of all seven known and four predicted genes with EST support did not identify any mutations.</div>
</front>
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<tree><country name="Canada"><noRegion><name sortKey="Fabin Han" sort="Fabin Han" uniqKey="Fabin Han" last="Fabin Han">FABIN HAN</name>
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<name sortKey="Grimes, David A" sort="Grimes, David A" uniqKey="Grimes D" first="David A." last="Grimes">David A. Grimes</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Refinement of the DYT15 locus in myoclonus dystonia

Refinement of the DYT15 locus in myoclonus dystonia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri