Tag: Ficoll

Using RFLP-PCR, Mini Sequencing and STR Techniques in Preimplantation Diagnosis of Spinal Muscular Dystrophy in Vietnam

Background: Spinal Muscular Atrophy (SMA) is one of the most common autosomal recessive disorders in children after Duchenne muscular dystrophy affecting approximately 1 in 11,000 live births. There is no effective therapy for SMA; however, broadening our knowledge about the molecular genetics of the disease is resultant to develop potential…

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Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Significance Cilia are tubulin-based cellular appendages, and their dysfunction has been linked to a variety of genetic diseases. Ciliary chondrodysplasia is one such condition that can co-occur with cystic kidney disease and other organ manifestations. We modeled skeletal ciliopathies by mutating two established disease genes in Xenopus tropicalis frogs. Bioinformatic…

Continue Reading Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease