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Title
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Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlerse-Danlos syndrome
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Author
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Abstract
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| Cervical artery dissection (CeAD) is a rare condition. One of the causes is the vascular type of Ehlers-Danlos syndrome (vEDS). A novel missense mutation in COL3A1 was found in a young patient with CeAD as the single manifestation of vEDS. This is a heterozygous c.953G > A mutation in exon 14, disrupting the normal Gly-X-Y repeats of type III procollagen, by converting glycine to aspartic acid. (C) 2015 Elsevier Masson SAS. All rights reserved. |
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Language
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English
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Source (journal)
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European journal of medical genetics. - Paris
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Publication
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Paris
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2015
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ISSN
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1769-7212
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DOI
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10.1016/J.EJMG.2015.10.009
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Volume/pages
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58
:11
(2015)
, p. 634-636
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ISI
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000365349200013
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Pubmed ID
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26497932
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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