Article
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Human molecular genetics - 1 Jan 2016
DeLuca Adam P, Whitmore S Scott, Barnes Jenna, Sharma Tasneem P, Westfall Trudi A, Scott C Anthony, Weed Matthew C, Wiley Jill S, Wiley Luke A, Johnston Rebecca M, Schnieders Michael J, Lentz Steven R, Tucker Budd A, Mullins Robert F, Scheetz Todd E, Stone Edwin M, Slusarski Diane C
Abstract excerpt
Retinitis pigmentosa (RP) is a highly heterogeneous group of disorders characterized by degeneration of the retinal photoreceptor cells and progressive loss of vision. While hundreds of mutations in more than 100 genes have been reported to cause RP, discovering the causative mutations in many patients remains a significant challenge. Exome sequencing in an individual affected with non-syndromic RP revealed two...
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