Literature DB >> 1639429

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

E P Economou1, H H Kazazian, S E Antonarakis.   

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Year:  1992        PMID: 1639429     DOI: 10.1016/0888-7543(92)90189-y

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


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  6 in total

1.  Fluorescence-based mutation detection. Single-strand conformation polymorphism analysis (F-SSCP).

Authors:  J S Ellison
Journal:  Mol Biotechnol       Date:  1996-02       Impact factor: 2.695

2.  Large DNA inversions, deletions, and TaqI site mutations in severe haemophilia A.

Authors:  M S Figueiredo; M H Tavella; B P Simões
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132

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

5.  Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.

Authors:  C R Pullinger; L K Hennessy; J E Chatterton; W Liu; J A Love; C M Mendel; P H Frost; M J Malloy; V N Schumaker; J P Kane
Journal:  J Clin Invest       Date:  1995-03       Impact factor: 14.808

6.  In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.

Authors:  George Priya Doss C
Journal:  J Biomed Sci       Date:  2012-03-16       Impact factor: 8.410

  6 in total

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