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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness

✍ Scribed by Dryja, Thaddeus P.; Berson, Eliot L.; Rao, Vikram R.; Oprian, Daniel D.


Book ID
109916434
Publisher
Nature Publishing Group
Year
1993
Tongue
English
Weight
367 KB
Volume
4
Category
Article
ISSN
1061-4036

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More than 100 mutations within the rhodopsin gene have been found to be responsible for some forms of retinitis pigmentosa, a progressive retinal degeneration characterized by night blindness and subsequent disturbance of day vision that may eventually result in total blindness. Congenital stationar