Rhodopsin mutations in autosomal dominant retinitis pigmentosa

@article{AlMaghtheh1993RhodopsinMI,
  title={Rhodopsin mutations in autosomal dominant retinitis pigmentosa},
  author={May Al-Maghtheh and C Y Gregory and Chris F. Inglehearn and A J Hardcastle and Shomi S Bhattacharya},
  journal={Human Mutation},
  year={1993},
  volume={2}
}
Retinitis pigmentosa is an inherited progressive disease which is a major cause of blindness in western communities. It can be inherited as an autosomal dominant, autosomal recessive, or X‐linked recessive disorder. In the autosomal dominant form (adRP), which comprises about 25% of total cases, approximately 30% of families have mutations in the gene encoding the rod photoreceptor‐specific protein rhodopsin. This is the transmembrane protein which, when photoexcited, initiates the visual… Expand
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TLDR
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TLDR
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TLDR
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