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Llavona P, Pinelli M, Mutarelli M, et al. Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes (Basel). 2017;8(10)doi: 10.3390/genes8100283.
Llavona, P., Pinelli, M., Mutarelli, M., Marwah, V. S., Schimpf-Linzenbold, S., Thaler, S., Yoeruek, E., Vetter, J., Kohl, S., & Wissinger, B. (2017). Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes, 8(10), . https://doi.org/10.3390/genes8100283
Llavona, Pablo, et al. "Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases." Genes vol. 8,10 (2017). doi: https://doi.org/10.3390/genes8100283
Llavona P, Pinelli M, Mutarelli M, Marwah VS, Schimpf-Linzenbold S, Thaler S, Yoeruek E, Vetter J, Kohl S, Wissinger B. Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases. Genes (Basel). 2017 Oct 20;8(10). doi: 10.3390/genes8100283. PMID: 29053642; PMCID: PMC5664133.
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Genes (Basel). 2017 Oct 20;8(10). doi: 10.3390/genes8100283.

Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases.

Genes

Pablo Llavona, Michele Pinelli, Margherita Mutarelli, Veer Singh Marwah, Simone Schimpf-Linzenbold, Sebastian Thaler, Efdal Yoeruek, Jan Vetter, Susanne Kohl, Bernd Wissinger

Affiliations

  1. Institute for Ophthalmic Research, Centre for Ophthalmology, 72076 Tuebingen, Germany. [email protected].
  2. Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy. [email protected].
  3. Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy. [email protected].
  4. Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy. [email protected].
  5. Institute of Biotechnology, University of Helsinki, 00014 Helsinki, Finland. [email protected].
  6. Institute for Ophthalmic Research, Centre for Ophthalmology, 72076 Tuebingen, Germany. [email protected].
  7. Center for Ophthalmology, 72076 Tuebingen, Germany. [email protected].
  8. Center for Ophthalmology, 72076 Tuebingen, Germany. [email protected].
  9. Augenklinik Mülheim, 45468 Mülheim an der Ruhr, Germany. [email protected].
  10. Universitäts-Augenklinik, 55131 Mainz, Germany. [email protected].
  11. Institute for Ophthalmic Research, Centre for Ophthalmology, 72076 Tuebingen, Germany. [email protected].
  12. Institute for Ophthalmic Research, Centre for Ophthalmology, 72076 Tuebingen, Germany. [email protected].

PMID: 29053642 PMCID: PMC5664133 DOI: 10.3390/genes8100283

Abstract

Inherited retinal diseases (IRDs) are often associated with variable clinical expressivity (VE) and incomplete penetrance (IP). Underlying mechanisms may include environmental, epigenetic, and genetic factors.

Keywords: Inherited retinal diseases; allelic expression imbalance; expressivity; penetrance; retina

Conflict of interest statement

The authors declare no conflict of interest.

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