Article
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
American journal of human genetics - 1 Nov 2009
Davidson Alice E, Millar Ian D, Urquhart Jill E, Burgess-Mullan Rosemary, Shweikh Yusrah, Parry Neil, O'Sullivan James, Maher Geoffrey J, McKibbin Martin, Downes Susan M, Lotery Andrew J, Jacobson Samuel G, Brown Peter D, Black Graeme C M, Manson Forbes D C
Abstract excerpt
Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy. Here, we describe four missense mutations in bestrophin-1, three that we believe are previously unreported, in patients...
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