Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

@article{Udar2003IdentificationOG,
  title={Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.},
  author={Nitin S Udar and Svetlana Yelchits and Meenal Chalukya and Vivek S. Yellore and Steve Nusinowitz and Amrita Kurian and Tamara R Vrabec and Irene Hussles Maumenee and Larry A. Donoso and Kent W. Small},
  journal={Human mutation},
  year={2003},
  volume={21 2},
  pages={
          170-1
        }
}
Cone rod dystrophy 5 (CORD5) is an autosomal dominant retinal disease that primarily affects cone function. The locus has previously been mapped to human chromosome 17p12-p13 between the markers D17S926/D17S849 and D17S945/D17S804. One of our "unaffected" recombinant individual from family 1175 was subsequently found to cross through this interval. Reexamination revealed that he was in fact mildly affected. This expanded the minimum candidate region. Direct sequencing of the GUCY2D and other… CONTINUE READING
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