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Article

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important.

Klinika oczna - 1 Jan 2000

Ołdak Monika, Ruszkowska Ewelina, Siwiec Sylwia, Pollak Agnieszka, Stawiński Piotr, Szulborski Kamil, Szaflik Jacek P

Abstract excerpt

The aim of the study was to identify the genetic background of retinitis pigmentosa in a Polish family with previously excluded involvement of the majority of known genes for this disease, except for the ORF15 exon in the RPGR gene (Xp21.1). ORF15 is a highly repetitive, purine-rich DNA region with a number of different polymorphic variants and thus difficult to study. Genomic DNA was isolated from peripheral...

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PMID: 29912501

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RPGR

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