{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T13:54:04Z","timestamp":1788357244684,"version":"build-2803163510"},"reference-count":23,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"9","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Stroke"],"published-print":{"date-parts":[[1999,9]]},"abstract":"<jats:p>\n            <jats:italic>Background and Purpose<\/jats:italic>\n            \u2014The 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 (\n            <jats:italic>COL5A1<\/jats:italic>\n            ) as a candidate gene for sCAD.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Methods<\/jats:italic>\n            \u2014We searched for mutations in the\n            <jats:italic>COL5A1<\/jats:italic>\n            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\u2013amplified fragments of the whole\n            <jats:italic>COL5A1<\/jats:italic>\n            coding sequence.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Results<\/jats:italic>\n            \u2014We detected 1 missense mutation leading to a predicted amino acid (192D\/N) substitution within the N-terminal propeptide in 2 siblings. All other patients showed regular\n            <jats:italic>COL5A1<\/jats:italic>\n            sequences with some silent polymorphisms.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Conclusions<\/jats:italic>\n            \u2014Mutations in the\n            <jats:italic>COL5A1<\/jats:italic>\n            gene do not appear to be a major factor in the etiology of sCAD.\n          <\/jats:p>","DOI":"10.1161\/01.str.30.9.1887","type":"journal-article","created":{"date-parts":[[2011,6,17]],"date-time":"2011-06-17T20:08:03Z","timestamp":1308341283000},"page":"1887-1890","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":31,"title":["Mutations in the\n            <i>COL5A1<\/i>\n            Coding Sequence Are Not Common in Patients With Spontaneous Cervical Artery Dissections"],"prefix":"10.1161","volume":"30","author":[{"given":"Caspar","family":"Grond-Ginsbach","sequence":"first","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"Weber","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juergen","family":"Haas","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erdem","family":"Orberk","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Kunz","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Otto","family":"Busse","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Hausser","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias","family":"Brandt","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brigitte","family":"Wildemann","sequence":"additional","affiliation":[{"name":"From the Departments of Neurology (C.G.-G., R.W., J.H., E.O., T.B., B.W.) and Dermatology (I.H.), University of Heidelberg, Germany; and the Department of Neurology (S.K., O.B.), City Hospital, Minden, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(97)00287-6"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.4.1166"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410440224"},{"key":"e_1_3_2_4_2","first-page":"394","volume":"3","year":"1994","unstructured":"Hausser I, Anton-Lamprecht I. 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