Literature DB >> 2831715

An insertion within the factor IX gene: hemophilia BEl Salvador.

S H Chen1, C R Scott, J R Edson, K Kurachi.   

Abstract

A patient with moderate to severe hemophilia B has been found to have a large insertion within his factor IX gene. The site of insertion is located in a DNA segment of approximately 0.8 kb between exon IV and an EcoRI site within intron D. The size of the DNA insertion is approximately 6 kb, and it contains at least two TaqI sites, two EcoRI sites, and one HindIII site. The insert probably originates from outside the FIX gene and does not represent an internal duplication. We propose that this abnormal FIX gene be called FIX El Salvador in recognition of the birthplace of the patient.

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Year:  1988        PMID： 2831715      PMCID： PMC1715227     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  14 in total

1.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

2.  An intragenic deletion of the factor IX gene in a family with hemophilia B.

Authors:  S H Chen; S Yoshitake; P F Chance; G L Bray; A R Thompson; C R Scott; K Kurachi
Journal:  J Clin Invest       Date:  1985-12       Impact factor: 14.808

3.  Enzymatic synthesis of deoxyribonucleic acid. XXXII. Replication of duplex deoxyribonucleic acid by polymerase at a single strand break.

Authors:  R B Kelly; N R Cozzarelli; M P Deutscher; I R Lehman; A Kornberg
Journal:  J Biol Chem       Date:  1970-01-10       Impact factor: 5.157

4.  Isolation and characterization of a cDNA coding for human factor IX.

Authors:  K Kurachi; E W Davie
Journal:  Proc Natl Acad Sci U S A       Date:  1982-11       Impact factor: 11.205

5.  Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency).

Authors:  I R Peake; B L Furlong; A L Bloom
Journal:  Lancet       Date:  1984-02-04       Impact factor: 79.321

6.  Molecular cloning of the gene for human anti-haemophilic factor IX.

Authors:  K H Choo; K G Gould; D J Rees; G G Brownlee
Journal:  Nature       Date:  1982-09-09       Impact factor: 49.962

7.  Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

Authors:  C M Noyes; M J Griffith; H R Roberts; R L Lundblad
Journal:  Proc Natl Acad Sci U S A       Date:  1983-07       Impact factor: 11.205

8.  Gene deletions in patients with haemophilia B and anti-factor IX antibodies.

Authors:  F Giannelli; K H Choo; D J Rees; Y Boyd; C R Rizza; G G Brownlee
Journal:  Nature       Date:  1983 May 12-18       Impact factor: 49.962

9.  Haemophilia B caused by a point mutation in a donor splice junction of the human factor IX gene.

Authors:  D J Rees; C R Rizza; G G Brownlee
Journal:  Nature       Date:  1985 Aug 15-21       Impact factor: 49.962

10.  The gene structure of human anti-haemophilic factor IX.

Authors:  D S Anson; K H Choo; D J Rees; F Giannelli; K Gould; J A Huddleston; G G Brownlee
Journal:  EMBO J       Date:  1984-05       Impact factor: 11.598
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  2 in total

1.  Factor IXMadrid 2: a deletion/insertion in factor IX gene which abolishes the sequence of the donor junction at the exon IV-intron d splice site.

Authors:  J Solera; M Magallón; J Martin-Villar; A Coloma
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

2.  Identification of a single nucleotide C-to-T transition and five different deletions in patients with severe hemophilia B.

Authors:  M Ludwig; R Schwaab; A Eigel; J Horst; H Egli; H H Brackmann; K Olek
Journal:  Am J Hum Genet       Date:  1989-07       Impact factor: 11.025
  2 in total

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