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Molecular Genetics and Genomics, ISSN 1617-4615, 6/2018, Volume 293, Issue 3, pp. 699 - 710
We investigated an Amish family in which three siblings presented with an early-onset childhood retinal dystrophy inherited in an autosomal recessive fashion.... 
Life Sciences | Human Genetics | Biochemistry, general | IQCB1 | Early-onset childhood retinal dystrophy | Plant Genetics and Genomics | Amish | Microbial Genetics and Genomics | Jalili syndrome | CNNM4 mutation | Animal Genetics and Genomics | Leber congenital amaurosis (LCA) | COMPREHENSIVE MOLECULAR DIAGNOSIS | SEVERE RETINAL DYSTROPHY | AMELOGENESIS IMPERFECTA | BIOCHEMISTRY & MOLECULAR BIOLOGY | LEBER CONGENITAL AMAUROSIS | GENE | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | RETINITIS-PIGMENTOSA | CLINICAL PHENOTYPE | CEP290 | Genetic Predisposition to Disease | Prospective Studies | Humans | Retinitis Pigmentosa - genetics | Male | Calmodulin-Binding Proteins - metabolism | Leber Congenital Amaurosis - genetics | Amelogenesis Imperfecta - genetics | Codon, Nonsense | Whole Exome Sequencing - methods | Nonsense Mediated mRNA Decay | Young Adult | Amish - genetics | Cation Transport Proteins - metabolism | Pedigree | Adolescent | Protein Binding | Protein Domains | Cation Transport Proteins - genetics | Cone-Rod Dystrophies | Female | Retrospective Studies | Cation Transport Proteins - chemistry | Genetic Linkage | Nonsense mutation | Blindness | Retinal degeneration | Retina | Genomes | Children | Mutation | Dystrophy | Chromosome 2 | Age | Apoptosis | Linkage analysis | Index Medicus | Early onset childhood retinal | dystrophy
Journal Article
Human Mutation, ISSN 1059-7794, 10/2010, Volume 31, Issue 10, pp. E1709 - E1766
Journal Article
Journal Article
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2005, Volume 102, Issue 17, pp. 6177 - 6182
Journal Article