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A retGC-1 Mutation in Autosomal Dominant Cone-Rod Dystrophy

โœ Scribed by Isabelle Perrault; Jean-Michel Rozet; Sylvie Gerber; Rosemary E. Kelsell; Eric Souied; Annick Cabot; David M. Hunt; Arnold Munnich; Josseline Kaplan


Book ID
117852519
Publisher
American Society of Human Genetics
Year
1998
Tongue
English
Weight
265 KB
Volume
63
Category
Article
ISSN
0002-9297

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Rod-cone dystrophies (retinitis pigmentosa [RP]) are a clinically and genetically heterogeneous group of inherited retinal disorders characterized by photoreceptor degeneration. RP1 is a major gene underlying autosomal dominant (ad) RP, though prevalence figures vary depending on the origin of the c