How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy. [electronic resource]
- Human mutation Mar 2009
- E490-9 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20941 doi
Base Sequence Blotting, Western DNA Mutational Analysis Desmin--chemistry Family Health Female Gene Expression Humans Male Microscopy, Electron Muscle, Skeletal--metabolism Muscular Diseases--genetics Mutation Pedigree Reverse Transcriptase Polymerase Chain Reaction Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization