Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity

@article{Hiraoka2001InsertionAD,
  title={Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity},
  author={Miki Hiraoka and Daniel M Berinstein and Michael T. Trese and Barkur S. Shastry},
  journal={Journal of Human Genetics},
  year={2001},
  volume={46},
  pages={178-181}
}
AbstractRetinopathy of prematurity (ROP) is a leading cause of blindness in premature children. It is a multifactorial disorder which causes fibrovascular tissue changes that affect the retina in low birth-weight and short gestational age infants. To determine the prevalence of Norrie disease (ND) gene mutations, clinical examination and molecular genetic analyses were performed in 100 pre-term babies of different ethnic backgrounds who developed advanced ROP. The leukocyte DNA was extracted… CONTINUE READING

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