Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.
Sign Up to like & getrecommendations! Published in 2019 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2019.3914
Abstract: Importance Next-generation sequencing can detect variants of uncertain significance (VUSs), for some of which gene therapy would not be advantageous. Therefore, the pathogenicity of compound heterozygous or homozygous variants should be confirmed before bilateral vitrectomy… read more here.
Keywords: vitro mutagenesis; gene therapy; rpe65; pathogenicity ... See more keywords
Methods for In Vitro Mutagenesis.
Sign Up to like & getrecommendations! Published in 2019 at "Cold Spring Harbor protocols"
DOI: 10.1101/pdb.top097733
Abstract: Several different methodologies for mutagenesis have been developed to introduce mutations at predetermined sites or regions within mammalian genes. These methods of in vitro mutagenesis have had a transforming effect on the understanding of functions… read more here.
Keywords: mutagenesis; vitro mutagenesis; biology; methods vitro ... See more keywords