1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

@article{Knight199814MC,
  title={1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.},
  author={Stuart W. Knight and Tom J. Vulliamy and Nina S. Heiss and Gert Matthijs and Koenraad Devriendt and J. Michael Connor and Michele D'Urso and Annemarie Poustka and P. J. Mason and Inderjeet S Dokal},
  journal={Journal of medical genetics},
  year={1998},
  volume={35 12},
  pages={993-6}
}
Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow failure develops and this is the main cause of early mortality. The DC1 gene responsible for the X linked form (MIM 305000) of dyskeratosis congenita has been mapped to Xq28. In order to narrow the candidate gene region, genetic linkage analysis was performed in eight X linked pedigrees using a set of… CONTINUE READING

References

Publications referenced by this paper.
Showing 1-10 of 16 references

Initial analysis from the dyskeratosis congenita registry ( DCR )

S Coulthard, A Chase, J Pickard
Blood • 1997

The Integrated Genomic Database ( IGD ) : enhancing the productivity of gene mapping projects

RC Allen, HY Zoghbi, AB Moseley
Proceedings of the 1996 International Symposium on Theoretical and Computational Genome Research • 1997

Genetic - control of X - inactivation and processes leading to X - inactivation skewing

K Devriendt, G Matthijs, E Legius
Am J Hum Genet • 1996

Transcriptional mapping in a 700kb region around the DXS 52 locus in Xq 28isolation of 6 novel transcripts and a novel ATPase isoform ( hPMCA 5 )

NS Heiss, B Korn, UC Rogner
Genome Res • 1996

Similar Papers

Loading similar papers…