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- W2047428726 abstract "Spontaneous cervical artery dissection (sCAD) is a common cause of stroke in patients below 55 years. Dermal connective tissue abnormalities have been observed in up to 60% of patients. A chromosomal locus for connective tissue abnormalities associated with sCAD has been mapped to chromosome 15q24 to a candidate region containing the lysyl oxidase-like 1 gene (LOXL1). LOXL1 an excellent candidate susceptibility gene for non-familial sCAD was investigated by mutation analysis and a genetic association study.We sequenced the whole coding region of the LOXL1 gene in 15 sCAD patients and performed a genetic association study in 157 sCAD patients using 12 single nucleotide polymorphisms (SNP).The SNP rs3825942 (Gly153Asp) showed marginal association with sCAD on an allele basis and in the dominant genetic model, and intronic SNP rs893817 under a recessive model only. None of the SNP haplotypes was associated with sCAD.Genetic variation in LOXL1 might play a role as a risk factor for sCAD." @default.
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- W2047428726 date "2007-01-01" @default.
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- W2047428726 title "Association between Single Nucleotide Polymorphisms in the Lysyl Oxidase-Like 1 Gene and Spontaneous Cervical Artery Dissection" @default.
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- W2047428726 doi "https://doi.org/10.1159/000106980" @default.
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