Literature DB >> 8069313

A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene.

S I Bidichandani1, C R Shiach, W G Lanyon, J M Connor.   

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Year:  1994        PMID： 8069313     DOI： 10.1093/hmg/3.4.651

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  4 in total

1.  Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

Authors:  K Ohno; J M Brengman; K J Felice; D R Cornblath; A G Engel
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

2.  Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Authors:  Pia Pinholt Madsen; Maria Kibaek; Xavier Roca; Ravi Sachidanandam; Adrian R Krainer; Ernst Christensen; Robert D Steiner; K Michael Gibson; Thomas J Corydon; Inga Knudsen; Ronald J A Wanders; Jos P N Ruiter; Niels Gregersen; Brage Storstein Andresen
Journal:  Hum Genet       Date:  2005-11-30       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
  4 in total

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