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OBJECTIVEJoubert syndrome (JS) is caused by mutations in> 34 genes that encode proteins involved with primary (nonmotile) cilia and ciliary basal bodies. This study describes the eye phenotype JS
Posted in Antibodies, Assay Kits, Biology Cells, cDNA, Clia Kits, Culture Cells, Devices, DNA, DNA Templates, DNA Testing, Elisa Kits, Enzymes, Equipments, Exosomes, Gels, Isotypes, Medium & Serums, NATtrol, Panel, Particles, PCR, Pcr Kits, Reagents, Recombinant Proteins, Ria Kits, RNA, Test Kits, Uncategorized, Vector & Virus, Western Blot
Background: To characterize the phenotype and genotype of posterior microphthalmos rare syndrome associating (PM), retinitis pigmentosa (RP), and foveoschisis in Spanish family relatives. Methods:
Posted in Antibodies, Assay Kits, Biology Cells, cDNA, Clia Kits, Culture Cells, Devices, DNA, DNA Templates, DNA Testing, Elisa Kits, Enzymes, Equipments, Exosomes, Gels, Isotypes, Medium & Serums, NATtrol, Panel, Particles, PCR, Pcr Kits, Reagents, Recombinant Proteins, Ria Kits, RNA, Test Kits, Uncategorized, Vector & Virus, Western Blot
To investigate the relationship between a set of six candidate genes and the risk of diabetic retinopathy (DR) in a cohort of Chinese patients town community with type 2 diabetes mellitus (T2DM).
Posted in Antibodies, Assay Kits, Biology Cells, cDNA, Clia Kits, Culture Cells, Devices, DNA, DNA Templates, DNA Testing, Elisa Kits, Enzymes, Equipments, Exosomes, Gels, Isotypes, Medium & Serums, NATtrol, Panel, Particles, PCR, Pcr Kits, Reagents, Recombinant Proteins, Ria Kits, RNA, Test Kits, Uncategorized, Vector & Virus, Western Blot
A framework for understanding the phenotypic features of CRX retinopathy is established.To do phenotype-genotype correlation analysis in two groups of patients with heterozygous mutation in a