CoQ10 & Retinitis Pigmentosa.pdf

Jurkute_Coq10_pathway_NPJ_Genomic_med_2022.pdf
Preview of CoQ10 & Retinitis Pigmentosa
🔗 Source: discovery.ucl.ac.uk
📊 Size: 2.38 MB
👤 Author: Neringa Jurkute
⬇️ Downloads: 79

Summary

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype in 13 individuals from 12 unrelated families, with defects found in PDSS1, COQ2, COQ4, and COQ5 genes, leading to non-syndromic retinitis pigmentosa in some cases.

Description

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype in 13 individuals from 12 unrelated families, with defects...

Technical Information

  • File Format: PDF
  • File Size: 2.38 MB
  • Pages: 12
  • Language: EN
  • Author: Neringa Jurkute
  • Total Downloads: 79
  • Last Updated: 5 days ago

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