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Identification of Novel Alternative Splicing Events in the Huntingtin Gene and Assessment of the Functional Consequences Using Structural Protein Homology Modelling
Authors:Alis C Hughes  Matthew Mort  Lyn Elliston  Rhian M Thomas  Simon P Brooks  Stephen B Dunnett  Lesley Jones
Institution:1 Institute of Psychological Medicine and Clinical Neuroscience, MRC Centre for Neuropsychiatric Genetics and Genomics, Hadyn Ellis Building, Cardiff University, Cardiff CF24 4HQ, UK;2 Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK;3 Brain Repair Group, School of Biosciences, Cardiff University, Museum Avenue, Cardiff CF10 3AX, UK
Abstract:
Keywords:HD  Huntington's disease  UTR  untranslated region  PTC  premature termination codon  qPCR  quantitative PCR  3D  three-dimensional  PDB  Protein Data Bank  GO  Gene Ontology  TNPO1  Transportin 1  MSA  multiple sequence alignment
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