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Retinitis Pigmentosa 20

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Retinitis Pigmentosa 20" returned 0 free, full-text review articles. First 0 results:
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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Retinitis Pigmentosa 20" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Retinitis Pigmentosa 20" returned 4 free, full-text research articles. First few results:
Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.
Last Updated: Nov 21, 2013

To examine the clinical picture and molecular genetics of 12 Norwegian families with autosomal dominant retinitis pigmentosa (adRP) in order to achieve a genotype-phenotype correlation.

A linkage survey of 20 dominant retinitis pigmentosa families: frequencies of the nine known loci and evidence for further heterogeneity.
Last Updated: May 03, 2019

Autosomal dominant retinitis pigmentosa (ADRP) is caused by mutations in two known genes, rhodopsin and peripherin/Rds, and seven loci identified only by linkage analysis. Rhodopsin and peripherin/Rds have been estimated to account for 20-31% and less than 5% of ADRP, respectively. ...

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
Last Updated: Nov 13, 2018

The RPGR (retinitis pigmentosa GTPase regulator) gene for RP3, the most frequent genetic subtype of X-linked retinitis pigmentosa (XLRP), has been shown to be mutated in 10%-15% of European XLRP patients. We have examined the RPGR gene for mutations in a cohort of 80 affected males ...

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