Rhodopsin mutations in autosomal dominan
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Mai Al-Maghtheh; Cheryl Gregory; Chris Inglehearn; Alison Hardcastle; Shomi Bhat
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Article
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1993
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John Wiley and Sons
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English
⚖ 605 KB
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