نتایج جستجو برای: aipl1
تعداد نتایج: 84 فیلتر نتایج به سال:
PURPOSE To test patients from southern India for the presence of mutations that most commonly cause Leber congenital amaurosis (LCA) in northern America. METHODS A review of the literature identified 177 unique LCA causing mutations in eight different genes: aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), crumbs homolog 1 (CRB1), cone-rod homeobox (CRX), guanylate cyclase 2D (GU...
PURPOSE Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth. Variants in at least six genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1) have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa (RP). Genetically heterogeneous inheritance complicates the analy...
Leber congenital amaurosis (LCA) is the earliest and most severe form of all inherited retinal dystrophies, responsible for congenital blindness. Disease-associated mutations have been hitherto reported in seven genes. These genes are all expressed preferentially in the photoreceptor cells or the retinal pigment epithelium but they are involved in strikingly different physiologic pathways resul...
Introduction Retinitis pigmentosa (RP) affects between 1 in 3000 and 4000 people 1.77 2.35 million worldwide (https://rarediseases.org/rare-diseases/retinitis-pigmentosa/). The disease is characterized by the death of rod photoreceptor cells leading to defects dark adaptation night blindness. RP typically progresses loss peripheral vision eventually central over a period decades. Half cases occ...
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