A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
β Scribed by Dryja, Thaddeus P.; McGee, Terri L.; Reichel, Elias; Hahn, Lauri B.; Cowley, Glenn S.; Yandell, David W.; Sandberg, Michael A.; Berson, Eliot L.
- Book ID
- 109762530
- Publisher
- Nature Publishing Group
- Year
- 1990
- Tongue
- English
- Weight
- 384 KB
- Volume
- 343
- Category
- Article
- ISSN
- 0028-0836
- DOI
- 10.1038/343364a0
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π SIMILAR VOLUMES
Retinitis pigmentosa (RP) is the most common inherited retinal degeneration. A subset of patients with autosomal dominant (ad) RP carry a mutation in the rhodopsin gene. We have identified a new missense rhodopsin mutation. namely A346P, which cosegregates with the disease phenotype in one Spanish f
Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinal degenerations that can be autosomal dominant (ADRP), autosomal recessive (ARRP), or X-linked. Approximately 30% of ADRP patients show point mutations or small deletions in the rhodopsin gene. However, over 50% of the RP patien