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Article

X-inactivation pattern in carriers of X-linked retinitis pigmentosa: a valuable means of prognostic evaluation?

Human genetics - 1 Oct 1993

Friedrich U, Warburg M, Jørgensen A L

Abstract excerpt

In a large family with X-linked retinitis pigmentosa 2 (XLRP2), we reexamined 7 obligate carrier females and 6 daughters of obligate carriers, whose linkage relationships suggested that they carried the XLRP2 gene. The phenotype varied from totally normal eyes through mild retinal changes to complete loss of vision. The X-inactivation analysis was carried out with the highly informative probe M27 beta on DNA from...

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PMID: 8225316
DOI: 10.1007/BF01247335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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