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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...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Journal of Medical Genetics
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574394/ https://www.ncbi.nlm.nih.gov/pubmed/28442542 http://dx.doi.org/10.1136/jmedgenet-2016-104200 |