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October 15, 2000Blood

De novo factor VIII gene intron 22 inversion in a female carrier presents as a somatic mosaicism

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Authors

JOJohannes OldenburgUniversity of BonnSRSimone RostUniversitätsklinikum WürzburgOEOsman El‐MaarriUniversity of Bonn

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Oldenburg et al. (2000) studied this question.

synapsesocial.com/papers/6a42c729d2b0f73334ab0b38https://doi.org/10.1182/blood.v96.8.2905
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Also Consider

Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1The factor VIII Structure and Mutation Resource Site: HAMSTeRS version 41998 · 234 citations
  2. 2Factor VIII gene inversions in severe hemophilia A: results of an international consortium study1995 · 365 citations
  3. 3Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells1994 · 180 citations