non-syndromic retinitis pigmentosa

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa
Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J F Letteboer, Sylvia E C van Beersum, Ellen A Blokland, Helger G Yntema, Frans P M Cremers, Paul A van der Zwaag, Gavin Arno, Erwin van Wijk, Andrew R Webster, Lonneke Haer-Wigman

Journal of Medical Genetics Sep 2017, 54 (9) 624-632; DOI: 10.1136/jmedgenet-2016-104200

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non-syndromic retinitis pigmentosa