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Molecular Pathology, ISSN 0022-2593, 06/1998, Volume 51, Issue 3, p. 143
Many proteins depend on post-translational prenylation for a correct subcellular localisation and membrane anchoring. This involves the covalent attachment of... 
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 11/2015, Volume 56, Issue 12, pp. 7418 - 7426
PURPOSE. To identify mutations in FAM161A underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch and Belgian populations and to investigate... 
Journal Article
Methods in Molecular Biology, ISSN 1064-3745, 2018, Volume 1715, pp. 61 - 78
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2009, Volume 85, Issue 2, pp. 240 - 247
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2013, Volume 110, Issue 24, pp. 9856 - 9861
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which... 
Cardiovascular system | Exome | COS cells | Phenotypes | Blood vessels | Genetic mutation | Embryos | Sequencing | Zinc | Mutant proteins | SET DOMAIN | ZINC FINGERS | GENE | FZD4 | IKAROS | MULTIDISCIPLINARY SCIENCES | NORRIE DISEASE | LRP5 | MUTATIONS | IDENTIFICATION | LOCUS | Humans | Cercopithecus aethiops | Molecular Sequence Data | Family Health | Male | Gene Expression Profiling | Zebrafish - embryology | Gene Knockdown Techniques | DNA-Binding Proteins - metabolism | Cell Nucleus - metabolism | DNA Mutational Analysis | Female | Retinal Vessels - embryology | Amino Acid Sequence | Retinal Vessels - metabolism | Animals, Genetically Modified | Zebrafish Proteins - metabolism | Vitreoretinopathy, Proliferative - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Reverse Transcriptase Polymerase Chain Reaction | Vitreoretinopathy, Proliferative - metabolism | Zebrafish - genetics | Sequence Homology, Amino Acid | Transcription Factors - metabolism | Vitreoretinopathy, Proliferative - genetics | Animals | Pedigree | Zebrafish - metabolism | Luminescent Proteins - genetics | Mutation | Zebrafish Proteins - genetics | COS Cells | Microscopy, Fluorescence | Luminescent Proteins - metabolism | Gene mutations | Zebra fish | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | Retinal diseases | Health aspects | DNA sequencing | Retina | Zebrafish | Kinases | Cells | Deoxyribonucleic acid--DNA | Index Medicus | Biological Sciences
Journal Article
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 9675 - 10
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 253 - 264
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the... 
RHODOPSIN GENE | CHIP-SEQ REVEALS | FLAGELLAR LENGTH | RETINAL DISEASE | TRANSCRIPTIONAL NETWORK | KINASE | MOUSE | GENETICS & HEREDITY | CRX | GENOME BROWSER DATABASE | FAMILY | Genes, Recessive - genetics | Homeodomain Proteins - metabolism | Humans | Middle Aged | Genetic Loci - genetics | Molecular Sequence Data | Male | Young Adult | Adult | Female | Transcription, Genetic | Cilia - enzymology | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Chromosome Mapping | Mutation - genetics | Sequence Analysis, DNA | Regulatory Sequences, Nucleic Acid - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Animals | Rhodopsin - genetics | Pedigree | Trans-Activators - metabolism | Mice | Protein-Serine-Threonine Kinases - chemistry | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Ciliary body | Chromosome mapping | Usage | Retinitis pigmentosa | Physiological aspects | Causes of | Genetic aspects | Nucleotide sequencing | Eye diseases | Mutation | Kinases | Genes | Rodents | Polymorphism | Animal models | Transcription factors | retinal degeneration | Nonsense mutation | Amino acids | Data processing | MAP kinase | Retina | Missense mutation | Photoreceptors | Gene mapping | Cilia | Index Medicus
Journal Article