Genotype Analysis Identifies the Cause of the “Royal Disease”

@article{Rogaev2009GenotypeAI,
  title={Genotype Analysis Identifies the Cause of the “Royal Disease”},
  author={E. Rogaev and A. P. Grigorenko and G. Faskhutdinova and E. L. W. Kittler and Y. Moliaka},
  journal={Science},
  year={2009},
  volume={326},
  pages={817 - 817}
}
  • E. Rogaev, A. P. Grigorenko, +2 authors Y. Moliaka
  • Published 2009
  • Biology, Medicine
  • Science
  • The "royal disease," a blood disorder transmitted from Queen Victoria to European royal families, is a striking example of X-linked recessive inheritance. [...] Key Method We identified the likely disease-causing mutation by applying genomic methodologies (multiplex target amplification and massively parallel sequencing) to historical specimens from the Romanov branch of the royal family. The mutation occurs in F9, a gene on the X chromosome that encodes blood coagulation factor IX, and is predicted to alter…Expand Abstract
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    Materials and methods are available as supporting material on Science Online
      Mironov for bioinformatics; and A. Chikunov for general support
        Single-letter abbreviations for the amino acid residues are as follows
          Tazetdinov for technical support; V. Gromov аnd N. Nevolin for assistance with the bone samples