Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.

@article{Oh2000DescriptionOA,
  title={Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.},
  author={Kean T. Oh and Richard G. Weleber and Aj Lotery and Dawn M Oh and Andrea M. Billingslea and Edwin M. Stone},
  journal={Archives of ophthalmology},
  year={2000},
  volume={118 9},
  pages={
          1269-76
        }
}
OBJECTIVES To report the clinical characteristics of a family with autosomal dominant retinitis pigmentosa caused by a proline-to-alanine mutation at codon 23 (Pro23Ala) of the rhodopsin gene and to compare this phenotype with that associated with the more common proline-to-histidine mutation at codon 23 (Pro23His). METHODS We examined 6 patients within a single pedigree. The electroretinograms (ERGs) of 35 patients with known Pro23His mutations and of 22 healthy individuals were reviewed… CONTINUE READING
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