Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome.
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| Title: | Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome. |
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| Authors: | Witsch-Baumgartner, M., Fitzky, B.U., Ogorelkova, M., Kraft, H.G., Moebius, F.F., Glossmann, H., Seedorf, U., Gillessen-Kaesbach, G., Hoffmann, G.F., Clayton, P., Kelley, R.I., Utermann, G. |
| Source: | American Journal of Human Genetics. Feb2000, Vol. 66 Issue 2. 1 Diagram, 5 Charts, 3 Graphs. |
| Database: | Academic Search Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 5048336 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Witsch-Baumgartner%2C+M%2E%22">Witsch-Baumgartner, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Fitzky%2C+B%2EU%2E%22">Fitzky, B.U.</searchLink><br /><searchLink fieldCode="AR" term="%22Ogorelkova%2C+M%2E%22">Ogorelkova, M.</searchLink><br /><searchLink fieldCode="AR" term="%22Kraft%2C+H%2EG%2E%22">Kraft, H.G.</searchLink><br /><searchLink fieldCode="AR" term="%22Moebius%2C+F%2EF%2E%22">Moebius, F.F.</searchLink><br /><searchLink fieldCode="AR" term="%22Glossmann%2C+H%2E%22">Glossmann, H.</searchLink><br /><searchLink fieldCode="AR" term="%22Seedorf%2C+U%2E%22">Seedorf, U.</searchLink><br /><searchLink fieldCode="AR" term="%22Gillessen-Kaesbach%2C+G%2E%22">Gillessen-Kaesbach, G.</searchLink><br /><searchLink fieldCode="AR" term="%22Hoffmann%2C+G%2EF%2E%22">Hoffmann, G.F.</searchLink><br /><searchLink fieldCode="AR" term="%22Clayton%2C+P%2E%22">Clayton, P.</searchLink><br /><searchLink fieldCode="AR" term="%22Kelley%2C+R%2EI%2E%22">Kelley, R.I.</searchLink><br /><searchLink fieldCode="AR" term="%22Utermann%2C+G%2E%22">Utermann, G.</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Human+Genetics%22">American Journal of Human Genetics</searchLink>. Feb2000, Vol. 66 Issue 2. 1 Diagram, 5 Charts, 3 Graphs. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=5048336 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1086/302760 Languages: – Code: eng Text: English Titles: – TitleFull: Mutational Spectrum in the D7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Witsch-Baumgartner, M. – PersonEntity: Name: NameFull: Fitzky, B.U. – PersonEntity: Name: NameFull: Ogorelkova, M. – PersonEntity: Name: NameFull: Kraft, H.G. – PersonEntity: Name: NameFull: Moebius, F.F. – PersonEntity: Name: NameFull: Glossmann, H. – PersonEntity: Name: NameFull: Seedorf, U. – PersonEntity: Name: NameFull: Gillessen-Kaesbach, G. – PersonEntity: Name: NameFull: Hoffmann, G.F. – PersonEntity: Name: NameFull: Clayton, P. – PersonEntity: Name: NameFull: Kelley, R.I. – PersonEntity: Name: NameFull: Utermann, G. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 02 Text: Feb2000 Type: published Y: 2000 Identifiers: – Type: issn-print Value: 00029297 Numbering: – Type: volume Value: 66 – Type: issue Value: 2 Titles: – TitleFull: American Journal of Human Genetics Type: main |
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