Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 11940702.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
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.
Medical subject headings
- Collagen Type V
- Procollagen
- Sequence Analysis, DNA
- Vertebral Artery Dissection