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- W2885604433 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-ter..." @default.
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- W2885604433 date "1999-09-01" @default.
- W2885604433 modified "2023-09-23" @default.
- W2885604433 title "Mutations in the COL5A1 Coding Sequence Are Not Common in Patients With Spontaneous Cervical Artery Dissections" @default.
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