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Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections

The authors searched for mutations in the gene that codes for the α2 chain of type V procollagen in 10 patients with spontaneous cervical artery dissections (sCAD). Two patients carried a missense mutation affecting the predicted C-propeptide (T1227S; D1429V). A third patient carried two mutations (...

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Hauptverfasser: Grond-Ginsbach, Caspar (VerfasserIn) , Wigger, Frank (VerfasserIn) , Morcher, Marion (VerfasserIn) , Pein, Florian von (VerfasserIn) , Grau, Armin J. (VerfasserIn) , Haußer-Siller, Ingrid (VerfasserIn) , Brandt, Tobias (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: April 9, 2002
In: Neurology
Year: 2002, Jahrgang: 58, Heft: 7, Pages: 1103-1105
ISSN:1526-632X
DOI:10.1212/WNL.58.7.1103
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1212/WNL.58.7.1103
Verlag, lizenzpflichtig, Volltext: https://n.neurology.org/content/58/7/1103
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Verfasserangaben:C. Grond-Ginsbach, PhD; F. Wigger, MD; M. Morcher, PhD; F. von Pein, MD; A. Grau, MD; I. Hausser, PhD; and T. Brandt, MD
Beschreibung
Zusammenfassung:The authors searched for mutations in the gene that codes for the α2 chain of type V procollagen in 10 patients with spontaneous cervical artery dissections (sCAD). Two patients carried a missense mutation affecting the predicted C-propeptide (T1227S; D1429V). A third patient carried two mutations (V509A and P830L) in the same α2(V) chain. The T1227S mutation and the V509A/P830L haplotype also were detected among 50 healthy subjects. The D1429V substitution was detected neither in a series of 150 healthy control subjects nor among 50 additional patients with sCAD.
Beschreibung:Gesehen am 01.04.2021
Beschreibung:Online Resource
ISSN:1526-632X
DOI:10.1212/WNL.58.7.1103

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