North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene

@inproceedings{Bowne2016NorthCM,
  title={North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene},
  author={Sara Juanita Bowne and Lori Sullivan and Dianna K. Wheaton and Kirsten G. Locke and Kaylie D. Jones and Daniel C. Koboldt and Robert F Sir Fulton and Richard K. Wilson and Susan Halloran Blanton and David G.W. Birch and Stephen P. Daiger},
  booktitle={Molecular vision},
  year={2016}
}
PURPOSE To identify the underlying cause of disease in a large family with North Carolina macular dystrophy (NCMD). METHODS A large four-generation family (RFS355) with an autosomal dominant form of NCMD was ascertained. Family members underwent comprehensive visual function evaluations. Blood or saliva from six affected family members and three unaffected spouses was collected and DNA tested for linkage to the MCDR1 locus on chromosome 6q12. Three affected family members and two unaffected… CONTINUE READING
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References

Publications referenced by this paper.
SHOWING 1-10 OF 27 REFERENCES

Prdm13 regulates subtype specification of retinal amacrine interneurons and modulates visual sensitivity.

  • The Journal of neuroscience : the official journal of the Society for Neuroscience
  • 2015
VIEW 1 EXCERPT

PRDM proteins: important players in differentiation and disease.

  • BioEssays : news and reviews in molecular, cellular and developmental biology
  • 2011
VIEW 1 EXCERPT

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