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Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections
C Grond-Ginsbach1, F Wigger, M Morcher
1Department of Neurology, University of Heidelberg, Germany. Caspar Grond-Ginsbach@med.uni-heidelberg.de
Neurology
|April 10, 2002
Abstract:
The authors searched for mutations in the gene that codes for the alpha2 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 alpha2(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.