Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
Journal Article
Overview
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Animals
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Autoantigens
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Behavior and Behavior Mechanisms - Family
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Cells - Photoreceptor Cells, Vertebrate
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Cells - Photoreceptor Cells, Vertebrate
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Chemistry Techniques, Analytical - Blotting, Western
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Cloning, Molecular - Two-Hybrid System Techniques
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Diagnostic Techniques and Procedures - Fluorescent Antibody Technique, Indirect
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Diagnostic Techniques and Procedures - Fluorescent Antibody Technique, Indirect
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Electrochemical Techniques - Blotting, Western
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Environment and Public Health - Case-Control Studies
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Exons
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Female Urogenital Diseases - Kidney Diseases
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Gene Expression Regulation, Developmental
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Genetic Association Studies
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Health Care Evaluation Mechanisms - Case-Control Studies
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Homozygote
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Humans
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Immunologic Techniques - Blotting, Western
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Immunologic Techniques - Fluorescent Antibody Technique, Indirect
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Investigative Techniques - Case-Control Studies
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Investigative Techniques - Fluorescent Antibody Technique, Indirect
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Investigative Techniques - Fluorescent Antibody Technique, Indirect
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Male Urogenital Diseases - Kidney Diseases
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Mice
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Microtubule-Organizing Center - Centrosome
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Molecular Probe Techniques - Blotting, Western
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Molecular Probe Techniques - Blotting, Western
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Molecular Probe Techniques - Two-Hybrid System Techniques
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Molecular Sequence Data
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Mutation
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Neoplasm Proteins
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Nervous System - Photoreceptor Cells, Vertebrate
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Nervous System - Photoreceptor Cells, Vertebrate
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Nucleic Acids, Nucleotides, and Nucleosides - Cyclic AMP
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Nucleic Acids, Nucleotides, and Nucleosides - RNA, Small Interfering
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Nucleotides, Cyclic - Cyclic AMP
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Peripheral Nervous System - Photoreceptor Cells, Vertebrate
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Protein Interaction Mapping - Two-Hybrid System Techniques
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Proteins
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Purines - Cyclic AMP
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RNA - RNA, Small Interfering
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RNA, Messenger
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RNA, Small Untranslated - RNA, Small Interfering
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Rats
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Retina - Photoreceptor Cells, Vertebrate
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Retinal Diseases
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Reverse Transcriptase Polymerase Chain Reaction
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Ribonucleotides - Cyclic AMP
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Sociological Factors - Family
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Spindle Poles - Centrosome
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Subcellular Fractions
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Zebrafish
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Date in CU Experts
Full Author List
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Otto EA; Hurd TW; Airik R; Chaki M; Zhou W; Stoetzel C; Patil SB; Levy S; Ghosh AK; Murga-Zamalloa CA
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