How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Clemen, Christoph S
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
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