Genotype Analysis Identifies the Cause of the “Royal Disease”

@article{Rogaev2009GenotypeAI,
  title={Genotype Analysis Identifies the Cause of the “Royal Disease”},
  author={Evgeny I. Rogaev and Anastasia P. Grigorenko and Gulnaz Faskhutdinova and Ellen L. W. Kittler and Yuri K. Moliaka},
  journal={Science},
  year={2009},
  volume={326},
  pages={817 - 817}
}
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…
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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
        Materials and methods are available as supporting material on Science Online