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Mutation Spectra in Autosomal Dominant and Recessive Retinitis Pigmentosa in Northern Sweden

Retinal degenerations represent a heterogeneous group of disorders affecting the function of the retina. The frequency of retinitis pigmentosa (RP) is 1/3500 worldwide, however, in northern Sweden it is 1/2000 due to limited migration and a ‘founder’ effect. In this study we identified genetic mecha...

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Hlavní autoři: Golovleva, Irina, Köhn, Linda, Burstedt, Marie, Daiger, Stephen, Sandgren, Ola
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4113316/
https://ncbi.nlm.nih.gov/pubmed/20238024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/978-1-4419-1399-9_29
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