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.
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
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  Data: Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
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  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>
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  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.
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  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
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        Value: 10.1038/sj.ejhg.5200582
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        Text: English
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      – TitleFull: Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
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              Text: 2001 Jan
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