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, app
✦ LIBER ✦
Autosomal dominant retinitis pigmentosa with a rhodopsin mutation (Arg-135-Trp)
✍ Scribed by Ponjavic, Vesna ;Abrahamson, Magnus ;Andréasson, Sten ;Ehinger, Berndt ;Fex, Göran
- Book ID
- 109339714
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 724 KB
- Volume
- 75
- Category
- Article
- ISSN
- 1395-3907
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Mutations in the rhodopsin gene are reported to be responsible for approximately 25% of all cases of autosomal dominant Retinitis pigmentosa (adRP). Affected individuals from a large family with an unusually severe form of adRP were screened for mutations in the rhodopsin gene. Direct sequencing of
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