Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
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| Title: | Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. |
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| Authors: | Witsch-Baumgartner, M, Ciara, E, Löffler, J, Menzel, H J, Seedorf, U, Burn, J, Gillessen-Kaesbach, G, Hoffmann, G F, Fitzky, B U, Mundy, H, Clayton, P, Kelley, R I, Krajewska-Walasek, M, Utermann, G |
| Source: | European Journal of Human Genetics. Jan2001, Vol. 9 Issue 1, p45. 6p. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 8850778 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Witsch-Baumgartner%2C+M%22">Witsch-Baumgartner, M</searchLink><br /><searchLink fieldCode="AR" term="%22Ciara%2C+E%22">Ciara, E</searchLink><br /><searchLink fieldCode="AR" term="%22Löffler%2C+J%22">Löffler, J</searchLink><br /><searchLink fieldCode="AR" term="%22Menzel%2C+H+J%22">Menzel, H J</searchLink><br /><searchLink fieldCode="AR" term="%22Seedorf%2C+U%22">Seedorf, U</searchLink><br /><searchLink fieldCode="AR" term="%22Burn%2C+J%22">Burn, J</searchLink><br /><searchLink fieldCode="AR" term="%22Gillessen-Kaesbach%2C+G%22">Gillessen-Kaesbach, G</searchLink><br /><searchLink fieldCode="AR" term="%22Hoffmann%2C+G+F%22">Hoffmann, G F</searchLink><br /><searchLink fieldCode="AR" term="%22Fitzky%2C+B+U%22">Fitzky, B U</searchLink><br /><searchLink fieldCode="AR" term="%22Mundy%2C+H%22">Mundy, H</searchLink><br /><searchLink fieldCode="AR" term="%22Clayton%2C+P%22">Clayton, P</searchLink><br /><searchLink fieldCode="AR" term="%22Kelley%2C+R+I%22">Kelley, R I</searchLink><br /><searchLink fieldCode="AR" term="%22Krajewska-Walasek%2C+M%22">Krajewska-Walasek, M</searchLink><br /><searchLink fieldCode="AR" term="%22Utermann%2C+G%22">Utermann, G</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Human+Genetics%22">European Journal of Human Genetics</searchLink>. Jan2001, Vol. 9 Issue 1, p45. 6p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=8850778 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/sj.ejhg.5200579 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 45 Titles: – TitleFull: Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Witsch-Baumgartner, M – PersonEntity: Name: NameFull: Ciara, E – PersonEntity: Name: NameFull: Löffler, J – PersonEntity: Name: NameFull: Menzel, H J – PersonEntity: Name: NameFull: Seedorf, U – PersonEntity: Name: NameFull: Burn, J – PersonEntity: Name: NameFull: Gillessen-Kaesbach, G – PersonEntity: Name: NameFull: Hoffmann, G F – PersonEntity: Name: NameFull: Fitzky, B U – PersonEntity: Name: NameFull: Mundy, H – PersonEntity: Name: NameFull: Clayton, P – PersonEntity: Name: NameFull: Kelley, R I – PersonEntity: Name: NameFull: Krajewska-Walasek, M – PersonEntity: Name: NameFull: Utermann, G IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: Jan2001 Type: published Y: 2001 Identifiers: – Type: issn-print Value: 10184813 Numbering: – Type: volume Value: 9 – Type: issue Value: 1 Titles: – TitleFull: European Journal of Human Genetics Type: main |
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