Literature DB >> 18752578

Detection of large duplications within the factor VIII gene by MLPA.

S Rost, S Löffler, A Pavlova, C R Müller, J Oldenburg.   

Abstract

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Year:  2008        PMID： 18752578     DOI： 10.1111/j.1538-7836.2008.03125.x

Source DB:  PubMed          Journal:  J Thromb Haemost        ISSN： 1538-7836            Impact factor:   5.824


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  6 in total

1.  Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening.

Authors:  A B Payne; C J Bean; W C Hooper; C H Miller
Journal:  J Thromb Haemost       Date:  2012-09       Impact factor: 5.824

Review 2.  Genetic testing in bleeding disorders.

Authors:  C de Brasi; O El-Maarri; D J Perry; J Oldenburg; B Pezeshkpoor; A Goodeve
Journal:  Haemophilia       Date:  2014-05       Impact factor: 4.287

Review 3.  The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics.

Authors:  Zuben E Sauna; Jay N Lozier; Carol K Kasper; Chen Yanover; Timothy Nichols; Tom E Howard
Journal:  Blood       Date:  2014-11-18       Impact factor: 22.113

4.  Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.

Authors:  Nathalie Lannoy; Bernard Grisart; Stéphane Eeckhoudt; Christine Verellen-Dumoulin; Catherine Lambert; Miikka Vikkula; Cédric Hermans
Journal:  Eur J Hum Genet       Date:  2013-01-09       Impact factor: 4.246

5.  Successful Phenotype Improvement following Gene Therapy for Severe Hemophilia A in Privately Owned Dogs.

Authors:  Mary Beth Callan; Mark E Haskins; Ping Wang; Shangzhen Zhou; Katherine A High; Valder R Arruda
Journal:  PLoS One       Date:  2016-03-24       Impact factor: 3.240

6.  From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.

Authors:  Jana Lisa van Luttikhuizen; Janin Bublitz; Stephanie Schubert; Gunnar Schmidt; Winfried Hofmann; Susanne Morlot; Reena Buurman; Bernd Auber; Brigitte Schlegelberger; Doris Steinemann
Journal:  Mol Genet Genomic Med       Date:  2019-11-13       Impact factor: 2.183
  6 in total

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