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

Abstract:

: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.

journal_name

FEBS Lett

journal_title

FEBS letters

authors

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

doi

10.1016/0014-5793(92)80590-d

keywords:

subject

Has Abstract

pub_date

1992-06-08 00:00:00

pages

66-8

issue

1

eissn

0014-5793

issn

1873-3468

pii

0014-5793(92)80590-D

journal_volume

304

pub_type

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