Literature DB >> 9452104

Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC).

K Tavassoli1, A Eigel, B Dworniczak, E Valtseva, J Horst.   

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Year:  1998        PMID： 9452104     DOI： 10.1002/humu.1380110183

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Genomic features defining exonic variants that modulate splicing.

Authors:  Adam Woolfe; James C Mullikin; Laura Elnitski
Journal:  Genome Biol       Date:  2010-02-16       Impact factor: 13.583

2.  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

3.  Biased exon/intron distribution of cryptic and de novo 3' splice sites.

Authors:  Jana Královicová; Mikkel B Christensen; Igor Vorechovský
Journal:  Nucleic Acids Res       Date:  2005-09-01       Impact factor: 16.971
  3 in total

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