Detection of a new mutant α‐1‐antichymotrypsin in patients with occlusive‐cerebrovascular disease
- 8 June 1992
- journal article
- Published by Wiley in FEBS Letters
- Vol. 304 (1) , 66-68
- https://doi.org/10.1016/0014-5793(92)80590-d
Abstract
A new mutant α‐1‐antichymotrypsin (variant ACT) was found by direct sequencing and PCR‐single strand conformation polymorphism (PCR‐SSCP). This variant ACT was a point mutation of exon V of ACT, with the substitution of Met by Val. Four out of six individuals with this variant ACT had occlusive‐cerebrovascular disease, leading to one hypothesis that there might be an association between this mutation and occlusive‐cerebrovascular disease.Keywords
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