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Gly114Asp mutation of rhodopsin in autosomal dominant retinitis pigmentosa

✍ Scribed by José M. Millán; Sigrid Fuchs; Nuria Paricio; Heike Wedemann; Andreas Gal; Carmen Nájera; Felix Prieto


Book ID
117593280
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
745 KB
Volume
9
Category
Article
ISSN
0890-8508

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Rhodopsin mutations in autosomal dominan
✍ Mai Al-Maghtheh; Cheryl Gregory; Chris Inglehearn; Alison Hardcastle; Shomi Bhat 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 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