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Article

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

27 Jul 2012

Abstract excerpt

BACKGROUND: Retinitis pigmentosa and other hereditary retinal degenerations (HRD) are rare genetic diseases leading to progressive blindness. Recessive HRD are caused by mutations in more than 100 different genes. Laws of population genetics predict that, on a purely theoretical ground, such a high number of genes should translate into an extremely elevated frequency of unaffected carriers of mutations. In this...

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PMID: 22848652
DOI: 10.1371/journal.pone.0041902

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