A clinical and molecular characterisation of CRB1-associated maculopathy

• Main Authors: Khan, K.N, Robson, A, Mahroo, O.A.R, Arno, G, Inglehearn, C.F, Armengol, M, Waseem, N, Holder, G.E, Carss, K.J, Raymond, L.F, Webster, A.R, Moore, A.T, McKibbin, M, Van Genderen, M.M, Poulter, J.A, Michaelides, M
• Other Authors: OPHTHALMOLOGY
• Format: Article
• Published: Nature Publishing Group 2020
• Subjects: crumbs homologue 1 protein; protein; unclassified drug; CRB1 protein, human; eye protein; membrane protein; nerve protein; adult; allele; Article; clinical article; electronic patient record; female; follow up; genetic association; genetic screening; genotype phenotype correlation; heterozygote; human; infant; macular degeneration; male; next generation sequencing; ophthalmoscopy; optical coherence tomography; peripheral retina; phenotype; priority journal; retina maculopathy; retrospective study; visual acuity; young adult; adolescent; child; electronic health record; genetic association study; genetic predisposition; genetics; newborn; pathology; pathophysiology; photoreceptor outer segment; preschool child; Adolescent; Adult; Alleles; Child; Child, Preschool; Electronic Health Records; Eye Proteins; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Humans; Infant; Infant, Newborn; Macular Degeneration; Male; Membrane Proteins; Nerve Tissue Proteins; Retinal Photoreceptor Cell Outer Segment; Young Adult
• Online Access: https://scholarbank.nus.edu.sg/handle/10635/179042
• Institution: National University of Singapore

10.1038/s41431-017-0082-2