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Browsing School of Arts and Sciences by Author "Pavlova, A."

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Browsing School of Arts and Sciences by Author "Pavlova, A."

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  • F8 genetic analysis strategies when standard approaches fail 
    El Maarri, O.; Pezeshkpoor, B.; Pavlova, A.; Oldenburg, J. (2017-09-15)
    Haemophilia A is a common X-linked recessive disorder caused by mutations in F8 leading to deficiency or dysfunction of coagulant factor VIII (FVIII). Despite tremendous improvements in mutation screening methods, in ...
  • Heterozygous large deletions of Factor 8 gene in females identified by multiplex PCR-LC 
    El Maarri, O.; Pavlova, A.; Forster, T.; Delev, D.; Muller-Reible, C.; Oldenburg, J. (2017-09-13)
    Haemophilia A is the most common X-linked recessive bleeding disorder. In 5% of severely affected patients the mutations responsible for the disease are large deletions encompassing from one exon to the complete Factor 8 ...

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