Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

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.

American journal of human genetics, 2009-11, Vol.85 (5), p.581-592 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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