Literature DB >> 7911779

Investigation of the polymorphic AvaII site by a PCR-based assay at the human CD18 gene locus.

S Mastuura1, F Kishi.   

Abstract

The AvaII polymorphic site within the human CD18 gene was investigated in the Japanese population. A distinct distribution pattern is observed in this population. This polymorphism provides a new genetic marker for the long arm of chromosome 21 and should be a useful marker of leukocyte adhesion deficiency caused by mutations of the CD18 gene.

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Year:  1994        PMID： 7911779     DOI： 10.1007/bf00201583

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  3 in total

1.  Leukocyte adhesion deficiency: identification of novel mutations in two Japanese patients with a severe form.

Authors:  S Matsuura; F Kishi; M Tsukahara; H Nunoi; I Matsuda; K Kobayashi; T Kajii
Journal:  Biochem Biophys Res Commun       Date:  1992-05-15       Impact factor: 3.575

2.  Cloning of the beta subunit of the leukocyte adhesion proteins: homology to an extracellular matrix receptor defines a novel supergene family.

Authors:  T K Kishimoto; K O'Connor; A Lee; T M Roberts; T A Springer
Journal:  Cell       Date:  1987-02-27       Impact factor: 41.582

3.  Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization.

Authors:  E Solomon; R W Palmer; S Hing; S K Law
Journal:  Ann Hum Genet       Date:  1988-05       Impact factor: 1.670
  3 in total
  1 in total

1.  Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

Authors:  D. M. Fathallah; T. Jamal; M. R. Barbouche; M. Bejaoui; M. Ben Hariz; K. Dellagi
Journal:  J Biomed Biotechnol       Date:  2001
  1 in total

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