Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
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| Title: | Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. |
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| Authors: | Tiecke F; Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany., Katzke S, Booms P, Robinson PN, Neumann L, Godfrey M, Mathews KR, Scheuner M, Hinkel GK, Brenner RE, Hövels-Gürich HH, Hagemeier C, Fuchs J, Skovby F, Rosenberg T |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2001 Jan; Vol. 9 (1), pp. 13-21. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 11175294 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Tiecke+F%22">Tiecke F</searchLink>; Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Katzke+S%22">Katzke S</searchLink><br /><searchLink fieldCode="AU" term="%22Booms+P%22">Booms P</searchLink><br /><searchLink fieldCode="AU" term="%22Robinson+PN%22">Robinson PN</searchLink><br /><searchLink fieldCode="AU" term="%22Neumann+L%22">Neumann L</searchLink><br /><searchLink fieldCode="AU" term="%22Godfrey+M%22">Godfrey M</searchLink><br /><searchLink fieldCode="AU" term="%22Mathews+KR%22">Mathews KR</searchLink><br /><searchLink fieldCode="AU" term="%22Scheuner+M%22">Scheuner M</searchLink><br /><searchLink fieldCode="AU" term="%22Hinkel+GK%22">Hinkel GK</searchLink><br /><searchLink fieldCode="AU" term="%22Brenner+RE%22">Brenner RE</searchLink><br /><searchLink fieldCode="AU" term="%22Hövels-Gürich+HH%22">Hövels-Gürich HH</searchLink><br /><searchLink fieldCode="AU" term="%22Hagemeier+C%22">Hagemeier C</searchLink><br /><searchLink fieldCode="AU" term="%22Fuchs+J%22">Fuchs J</searchLink><br /><searchLink fieldCode="AU" term="%22Skovby+F%22">Skovby F</searchLink><br /><searchLink fieldCode="AU" term="%22Rosenberg+T%22">Rosenberg T</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2001 Jan; Vol. 9 (1), pp. 13-21. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print <i>Cited Medium: </i>Print <i>ISSN: </i>1018-4813 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=11175294 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/sj.ejhg.5200582 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 13 Titles: – TitleFull: Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Tiecke F – PersonEntity: Name: NameFull: Katzke S – PersonEntity: Name: NameFull: Booms P – PersonEntity: Name: NameFull: Robinson PN – PersonEntity: Name: NameFull: Neumann L – PersonEntity: Name: NameFull: Godfrey M – PersonEntity: Name: NameFull: Mathews KR – PersonEntity: Name: NameFull: Scheuner M – PersonEntity: Name: NameFull: Hinkel GK – PersonEntity: Name: NameFull: Brenner RE – PersonEntity: Name: NameFull: Hövels-Gürich HH – PersonEntity: Name: NameFull: Hagemeier C – PersonEntity: Name: NameFull: Fuchs J – PersonEntity: Name: NameFull: Skovby F – PersonEntity: Name: NameFull: Rosenberg T IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2001 Jan Type: published Y: 2001 Identifiers: – Type: issn-print Value: 1018-4813 Numbering: – Type: volume Value: 9 – Type: issue Value: 1 Titles: – TitleFull: European journal of human genetics : EJHG Type: main |
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