Genetic modifiers of non-penetrance and rna expression levels in prpf31-associated retinitis pigmentosa in a danish cohort

HIGHLIGHTS

  • who: Kristian Lisbjerg and collaborators from the Department of Ophthalmology, Copenhagen University Hospital-Rigshospitalet, Glostrup, Denmark have published the article: Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort, in the Journal: Genes 2023, 14, 435. of 29/Dec/2022
  • what: The authors aimed to examine PRPF31 expression levels and possible modifiers in symptomatic and non-penetrant carriers of disease-causing variants in PRPF31 in a Danish cohort. With mRNA expression analyses, the authors aimed to explore and investigate if a simple blood test can be . . .

     

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