Literature DB >> 1618300

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

M Tsuda1, Y Sei, M Yamamura, M Yamamoto, Y Shinohara.   

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.

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Year:  1992        PMID: 1618300     DOI: 10.1016/0014-5793(92)80590-d

Source DB:  PubMed          Journal:  FEBS Lett        ISSN: 0014-5793            Impact factor:   4.124


  2 in total

1.  Alpha 1-antichymotrypsin gene polymorphism and risk for Alzheimer's disease.

Authors:  T Muramatsu; S Matsushita; H Arai; H Sasaki; S Higuchi
Journal:  J Neural Transm (Vienna)       Date:  1996       Impact factor: 3.575

2.  Alpha-1-antichymotrypsin variant detected by PCR-single strand conformation polymorphism (PCR-SSCP) and direct sequencing.

Authors:  M Tsuda; Y Sei; M Matsumoto; H Kamiguchi; M Yamamoto; Y Shinohara; T Igarashi; M Yamamura
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

  2 in total

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