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    FEBS Lett. 1992 Jun 8;304(1):66-8.

    Detection of a new mutant alpha-1-antichymotrypsin in patients with occlusive-cerebrovascular disease.

    Tsuda M, Sei Y, Yamamura M, Yamamoto M, Shinohara Y.

    Department of Biochemistry, Tokai University, School of Medicine, Kanagawa, Japan.

    A new mutant alpha-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.

    PMID: 1618300 [PubMed - indexed for MEDLINE]

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