Literature DB >> 2510835

A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A.

V Chan1, T K Chan, T M Tong, D Todd.   

Abstract

A new point mutation due to C----T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishes the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.

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Year:  1989        PMID： 2510835

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


  4 in total

1.  Medin: an integral fragment of aortic smooth muscle cell-produced lactadherin forms the most common human amyloid.

Authors:  B Häggqvist; J Näslund; K Sletten; G T Westermark; G Mucchiano; L O Tjernberg; C Nordstedt; U Engström; P Westermark
Journal:  Proc Natl Acad Sci U S A       Date:  1999-07-20       Impact factor: 11.205

2.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

Authors:  E G Tuddenham; D N Cooper; J Gitschier; M Higuchi; L W Hoyer; A Yoshioka; I R Peake; R Schwaab; K Olek; H H Kazazian
Journal:  Nucleic Acids Res       Date:  1991-09-25       Impact factor: 16.971

3.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-09       Impact factor: 16.971

4.  Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

Authors:  E G Tuddenham; R Schwaab; J Seehafer; D S Millar; J Gitschier; M Higuchi; S Bidichandani; J M Connor; L W Hoyer; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1994-11-11       Impact factor: 16.971
  4 in total

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