Article
Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections.
Neurology - 9 Apr 2002
Grond-Ginsbach C, Wigger F, Morcher M, von Pein F, Grau A, Hausser I, Brandt T
Abstract excerpt
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...
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