| |  Online-Ressource |
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| Verfasst von: | Grond-Ginsbach, Caspar [VerfasserIn]  |
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| | Weber, Ralf [VerfasserIn] |
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| | Haas, Jürgen [VerfasserIn] |
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| | Orberk, Erdem [VerfasserIn] |
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| | Kunz, Stefanie [VerfasserIn] |
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| | Busse, Otto [VerfasserIn] |
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| | Haußer-Siller, Ingrid [VerfasserIn] |
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| | Brandt, Tobias [VerfasserIn] |
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| | Wildemann, Brigitte [VerfasserIn] |
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| Titel: | Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections |
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| Verf.angabe: | Caspar Grond-Ginsbach, Ralf Weber, Juergen Haas, Erdem Orberk, Stefanie Kunz, Otto Busse, Ingrid Hausser, Tobias Brandt, Brigitte Wildemann |
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| E-Jahr: | 1999 |
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| Jahr: | September 1, 1999 |
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| Umfang: | 4 S. |
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| Teil: | volume:30 |
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| | year:1999 |
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| | number:9 |
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| | pages:1887-1890 |
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| | extent:4 |
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| Fussnoten: | Gesehen am 12.04.2021 |
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| Titel Quelle: | Enthalten in: Stroke |
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| Ort Quelle: | New York, NY : Association, 1970 |
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| Jahr Quelle: | 1999 |
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| Band/Heft Quelle: | 30(1999), 9, Seite 1887-1890 |
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| ISSN Quelle: | 1524-4628 |
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| Abstract: | Background and Purpose: The dermal connective tissue of most patients with spontaneous cervical artery dissections (sCAD) contains abnormal collagen fibers. This suggests a predisposing connective tissue defect. The ultrastructural abnormalities in the skin of patients with sCAD have similarity with the morphological alterations in patients with Ehlers-Danlos syndrome type II, a dominant hereditary disorder that has been correlated in some patients to mutations within the genes encoding type V collagen. The aim of this study was to assess the alpha 1 chain of type V collagen (COL5A1) as a candidate gene for sCAD. Methods: We searched for mutations in the COL5A1 gene in cDNA from cultured fibroblasts of 19 patients with sCAD using single-strand conformational polymorphism analysis and nucleotide sequence analysis of polymerase chain reaction-amplified fragments of the whole COL5A1 coding sequence. Results: We detected 1 missense mutation leading to a predicted amino acid (192D/N) substitution within the N-terminal propeptide in 2 siblings. All other patients showed regular COL5A1 sequences with some silent polymorphisms. Conclusions: Mutations in the COL5A1 gene do not appear to be a major factor in the etiology of sCAD. |
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| DOI: | doi:10.1161/01.STR.30.9.1887 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
Volltext ; Verlag: https://doi.org/10.1161/01.STR.30.9.1887 |
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| | Volltext: https://www.ahajournals.org/doi/10.1161/01.STR.30.9.1887 |
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| | DOI: https://doi.org/10.1161/01.STR.30.9.1887 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| K10plus-PPN: | 1753628962 |
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| Verknüpfungen: | → Zeitschrift |
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Mutations in the COL5A1 coding sequence are not common in patients with spontaneous cervical artery dissections / Grond-Ginsbach, Caspar [VerfasserIn]; September 1, 1999 (Online-Ressource)
