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: | , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
April 9, 2002
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| 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 |
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| 520 | |a 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. | ||
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