Τρίτη 22 Ιανουαρίου 2019

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP [Genetics]

Retinitis pigmentosa (RP) is an inherited retinal degenerative disease with severe vision impairment leading to blindness. About 10–15% of RP cases are caused by mutations in the RPGR gene, with RPGR mutations accounting for 70% of X-linked RP cases. The mechanism by which RPGR mutations cause photoreceptor cell dysfunction is...

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