Refinement of the DYT15 locus in myoclonus dystonia
Identifieur interne : 001684 ( PascalFrancis/Corpus ); précédent : 001683; suivant : 001685Refinement of the DYT15 locus in myoclonus dystonia
Auteurs : FABIN HAN ; Lemuel Racacho ; Anthony E. Lang ; Dennis E. Bulman ; David A. GrimesSource :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
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.
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Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 07-0263073 INIST |
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ET : | Refinement of the DYT15 locus in myoclonus dystonia |
AU : | FABIN HAN; RACACHO (Lemuel); LANG (Anthony E.); BULMAN (Dennis E.); GRIMES (David A.) |
AF : | Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease/Ottawa/Canada (1 aut., 2 aut., 4 aut., 5 aut.); Department of Medicine, Division of Neurology, The University Health Network -Toronto Western Hospital/Toronto/Canada (3 aut.); Department of Medicine, Division of Neurology, The Ottawa Hospital/Ottawa/Canada (4 aut., 5 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2007; Vol. 22; No. 6; Pp. 888-892; Bibl. 17 ref. |
LA : | Anglais |
EA : | 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. |
CC : | 002B17; 002B17H; 002B17A01 |
FD : | Système nerveux pathologie; Myoclonie; Dystonie; Affinement; Locus |
FG : | Mouvement involontaire; Trouble neurologique; Extrapyramidal syndrome; Muscle strié pathologie; Encéphale pathologie; Système nerveux central pathologie |
ED : | Nervous system diseases; Myoclonus; Dystonia; Refinement; Locus |
EG : | Involuntary movement; Neurological disorder; Extrapyramidal syndrome; Striated muscle disease; Cerebral disorder; Central nervous system disease |
SD : | Sistema nervioso patología; Mioclonia; Distonía; Afinamiento; Locus |
LO : | INIST-20953.354000149445250240 |
ID : | 07-0263073 |
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Pascal:07-0263073Le document en format XML
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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>
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<ET>Refinement of the DYT15 locus in myoclonus dystonia</ET>
<AU>FABIN HAN; RACACHO (Lemuel); LANG (Anthony E.); BULMAN (Dennis E.); GRIMES (David A.)</AU>
<AF>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease/Ottawa/Canada (1 aut., 2 aut., 4 aut., 5 aut.); Department of Medicine, Division of Neurology, The University Health Network -Toronto Western Hospital/Toronto/Canada (3 aut.); Department of Medicine, Division of Neurology, The Ottawa Hospital/Ottawa/Canada (4 aut., 5 aut.)</AF>
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<LA>Anglais</LA>
<EA>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.</EA>
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