Hansen's disease in an HIV patient complicated by deep vein thrombosis: a rare complication of thalidomide therapy.

نویسندگان

  • Sandra Medeiros
  • Candida Fernandes
  • Nídia Martins
  • João Machado
  • Heinz Kutzner
  • Ana Afonso
  • Raquel Vieira
  • Fernando Maltez
  • Jorge Cardoso
چکیده

domains and the putative deaminase domain, which are located in exon 2, exons 2-7 and exons 9-14 respectively [4]. The deaminase domain of the DSRAD protein is located in the codon from 886 to 1,221, which is approximately 30% of the full length of the DSRAD protein. These results suggest that the deaminase domain might be a hot spot for mutations [5]. The missense mutation c.3073A>G alters a conserved amino acid residue at 958 in exon 10, which is located in the putative deaminase domain, so the amino acid residue at 958 is suspected to play an important role in the conformation of the catalytic site of the enzyme, and the mutation at this position could probably compromises enzyme activity [6]. In conclusion, the results provide an addition to the DSH mutation database and will contribute further to the understanding of DSH genotype/phenotype correlations and to the pathogenesis of this disease. In a future study, we will construct the p.H958R mutant of DSRAD, and explore the pathogenesis of DSH. ■ Acknowledgements. This work was supported by the National Natural Science Foundation of China (No.30371295). Conflict of interest: none.

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عنوان ژورنال:
  • European journal of dermatology : EJD

دوره 19 3  شماره 

صفحات  -

تاریخ انتشار 2009