Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

BACKGROUND: Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentos...

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發表在:J Med Genet
Main Authors: Nguyen, Thanh-Minh T, Hull, Sarah, Roepman, Ronald, van den Born, L Ingeborgh, Oud, Machteld M, de Vrieze, Erik, Hetterschijt, Lisette, Letteboer, Stef J F, van Beersum, Sylvia E C, Blokland, Ellen A, Yntema, Helger G, Cremers, Frans P M, van der Zwaag, Paul A, Arno, Gavin, van Wijk, Erwin, Webster, Andrew R, Haer-Wigman, Lonneke
格式: Artigo
語言:Inglês
出版: Journal of Medical Genetics 2017
主題:
New Disease Loci
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5574394/
https://ncbi.nlm.nih.gov/pubmed/28442542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-104200
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