A New Probe for the Diagnosis of Myotonic Muscular Dystrophy.
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| Title: | A New Probe for the Diagnosis of Myotonic Muscular Dystrophy. |
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| Authors: | BARTLETT, R. J. (AUTHOR), PERICAK-VANCE, M. A. (AUTHOR), YAMAOKA, L. (AUTHOR), GILBERT, J. (AUTHOR), HERBSTREITH, M. (AUTHOR), HUNG, W.-Y. (AUTHOR), LEE, J. E. (AUTHOR), MOHANDAS, T. (AUTHOR), BRUNS, G. (AUTHOR), LABERGE, C. (AUTHOR), THIBAULT, M.-C. (AUTHOR), Ross, D. (AUTHOR), ROSES, A. D. (AUTHOR) |
| Source: | Science (pre-March 2025). 3/27/1987, Vol. 235 Issue 4796, p1648-1650. 3p. 4 Graphs. |
| Abstract: | Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19519), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4. [ABSTRACT FROM AUTHOR] |
| Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: pbh DbLabel: Psychology and Behavioral Sciences Collection An: 192307887 AccessLevel: 6 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A New Probe for the Diagnosis of Myotonic Muscular Dystrophy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22BARTLETT%2C+R%2E+J%2E%22">BARTLETT, R. J.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22PERICAK-VANCE%2C+M%2E+A%2E%22">PERICAK-VANCE, M. A.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22YAMAOKA%2C+L%2E%22">YAMAOKA, L.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22GILBERT%2C+J%2E%22">GILBERT, J.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22HERBSTREITH%2C+M%2E%22">HERBSTREITH, M.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22HUNG%2C+W%2E-Y%2E%22">HUNG, W.-Y.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22LEE%2C+J%2E+E%2E%22">LEE, J. E.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22MOHANDAS%2C+T%2E%22">MOHANDAS, T.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22BRUNS%2C+G%2E%22">BRUNS, G.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22LABERGE%2C+C%2E%22">LABERGE, C.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22THIBAULT%2C+M%2E-C%2E%22">THIBAULT, M.-C.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ross%2C+D%2E%22">Ross, D.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22ROSES%2C+A%2E+D%2E%22">ROSES, A. D.</searchLink> (AUTHOR) – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Science+%28pre-March+2025%29%22">Science (pre-March 2025)</searchLink>. 3/27/1987, Vol. 235 Issue 4796, p1648-1650. 3p. 4 Graphs. – Name: Abstract Label: Abstract Group: Ab Data: Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19519), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4. [ABSTRACT FROM AUTHOR] – Name: AbstractSuppliedCopyright Label: Group: Ab Data: <i>Copyright of Science (pre-March 2025) is the property of American Association for the Advancement of Science and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.) |
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| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1126/science.3029876 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 3 StartPage: 1648 Titles: – TitleFull: A New Probe for the Diagnosis of Myotonic Muscular Dystrophy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: BARTLETT, R. J. – PersonEntity: Name: NameFull: PERICAK-VANCE, M. A. – PersonEntity: Name: NameFull: YAMAOKA, L. – PersonEntity: Name: NameFull: GILBERT, J. – PersonEntity: Name: NameFull: HERBSTREITH, M. – PersonEntity: Name: NameFull: HUNG, W.-Y. – PersonEntity: Name: NameFull: LEE, J. E. – PersonEntity: Name: NameFull: MOHANDAS, T. – PersonEntity: Name: NameFull: BRUNS, G. – PersonEntity: Name: NameFull: LABERGE, C. – PersonEntity: Name: NameFull: THIBAULT, M.-C. – PersonEntity: Name: NameFull: Ross, D. – PersonEntity: Name: NameFull: ROSES, A. D. IsPartOfRelationships: – BibEntity: Dates: – D: 27 M: 03 Text: 3/27/1987 Type: published Y: 1987 Identifiers: – Type: issn-print Value: 00368075 Numbering: – Type: volume Value: 235 – Type: issue Value: 4796 Titles: – TitleFull: Science (pre-March 2025) Type: main |
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