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Article

Good Epidemiologic Practice in Retinitis Pigmentosa: From Phenotyping to Biobanking

30 May 2011

Abstract excerpt

Inherited retinal dystrophies, such as retinitis pigmentosa (RP), include a group of relatively rare hereditary diseases caused by mutations in genes that code for proteins involved in the maintenance and function of the photoreceptor cells (cones and rods). The different forms of RP consist of progressive neurodegenerative disorders which are generally related to various and severe limitations of visual...

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PMID: 22131871
DOI: 10.2174/138920211795860071

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