Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing

While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40–50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of IRD in a family by whole genome sequence (WGS) analysis. Clinical characterizati...

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Bibliografski detalji
Izdano u:Physiol Genomics
Glavni autori: Branham, Kari, Matsui, Hiroko, Biswas, Pooja, Guru, Aditya A., Hicks, Michael, Suk, John J., Li, He, Jakubosky, David, Long, Tao, Telenti, Amalio, Nariai, Naoki, Heckenlively, John R., Frazer, Kelly A., Sieving, Paul A., Ayyagari, Radha
Format: Artigo
Jezik:Inglês
Izdano: American Physiological Society 2016
Teme:
General Interest
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5206392/
https://ncbi.nlm.nih.gov/pubmed/27764769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/physiolgenomics.00101.2016
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